Muscular Dystrophy: Types, Diagnosis, and Treatment | Clinique Omicron<\/title>\n<meta name=\"description\" content=\"Muscular dystrophies are genetic diseases that cause progressive muscle weakness. Duchenne, Becker, myotonic, and limb-girdle: diagnosis, genetics, and management in Quebec.\">\n<meta name=\"keywords\" content=\"dystrophie musculaire, dystrophie musculaire Duchenne, dystrophie musculaire Becker, dystrophie myotonique Steinert, dystrophie musculaire ceinture, CK dystrophie musculaire, biopsie musculaire, dystrophie musculaire traitement Qu\u00e9bec\">\n<link rel=\"preconnect\" href=\"https:\/\/fonts.googleapis.com\">\n<link href=\"https:\/\/fonts.googleapis.com\/css2?family=Cinzel:wght@600&family=Poppins:wght@400;500;600;700&display=swap\" rel=\"stylesheet\">\n<style>\n.co-wrap * { font-family: 'Poppins', sans-serif; box-sizing: border-box; }\n.co-wrap { max-width: 1100px; margin: 0 auto; padding: 30px 0 60px; }\n.co-label { font-family: 'Cinzel', serif; font-size: 14px; font-weight: bold; letter-spacing: 1px; text-transform: uppercase; color: #4D6577; margin-bottom: 14px; display: block; }\n.co-wrap h1 { font-size: 32px; font-weight: 500; color: #323C52; margin: 0 0 22px; line-height: 1.2; }\n.co-intro { font-size: 16px; line-height: 1.75; color: #4D6577; margin-bottom: 36px; padding-bottom: 32px; border-bottom: 1px solid rgba(77,101,119,.2); }\n.co-wrap h2 { font-size: 20px; font-weight: 600; color: #323C52; margin: 32px 0 12px; }\n.co-wrap p { font-size: 15px; color: #4D6577; line-height: 1.7; margin-bottom: 14px; }\n.co-list { list-style: none; padding: 0; margin: 12px 0 24px; }\n.co-list li { font-size: 15px; color: #4D6577; padding: 10px 14px 10px 38px; margin-bottom: 8px; border-radius: 6px; position: relative; background: rgba(77,101,119,.06); border-left: 3px solid #4D6577; }\n.co-list li::before { content: \"\u2713\"; position: absolute; left: 12px; font-weight: 700; color: #4D6577; }\n.co-table { width: 100%; border-collapse: collapse; margin: 14px 0 22px; font-size: 14px; border-radius: 8px; overflow: hidden; table-layout: fixed; }\n.co-table thead tr { background: #323C52; color: #fff; }\n.co-table thead th { padding: 11px 16px; text-align: left; font-weight: 600; font-size: 13px; }\n.co-table tbody tr:nth-child(even) { background: rgba(77,101,119,.06); }\n.co-table tbody tr:nth-child(odd) { background: #fff; }\n.co-table td { padding: 10px 16px; color: #4D6577; border-bottom: 1px solid rgba(77,101,119,.12); font-size: 14px; vertical-align: top; }\n.co-table td:first-child { font-weight: 600; color: #323C52; }\n.co-infobox { display: flex; gap: 12px; background: rgba(77,101,119,.06); border-radius: 8px; border-left: 4px solid #4D6577; padding: 14px 18px; margin: 18px 0 28px; font-size: 14px; color: #4D6577; line-height: 1.65; }\n.co-infobox .ico { font-size: 18px; flex-shrink: 0; }\n.co-urgence { background: #fff8f8; border-left: 5px solid #c0392b; border-radius: 6px; padding: 20px 26px; margin: 24px 0 32px; }\n.co-urgence .co-urgence-titre { font-size: 13px; font-weight: 700; color: #c0392b; letter-spacing: 1.5px; text-transform: uppercase; margin-bottom: 10px; }\n.co-urgence p { color: #5a2020; font-size: 14px; margin: 0 0 10px; line-height: 1.7; }\n.co-urgence p:last-child { margin-bottom: 0; }\n.co-disclaimer { font-size: 13px; color: #8a9aaa; font-style: italic; border-top: 1px solid rgba(77,101,119,.15); padding-top: 24px; margin-top: 40px; line-height: 1.6; }\n<\/style>\n<\/head>\n<body>\n<div class=\"co-wrap\">\n <span class=\"co-label\">Neurology & Medical Genetics & Internal Medicine<\/span>\n <h1>Muscular dystrophy<\/h1>\n\n <div class=\"co-intro\">\n Muscular dystrophies (MDs) are a heterogeneous group of hereditary genetic diseases characterized by progressive degeneration of skeletal - and sometimes cardiac and smooth - muscle tissue, leading to muscle weakness and atrophy with variable progression depending on the form. All share a common anatomopathological basis: necrosis of muscle fibers, insufficient regeneration and progressive replacement of muscle by fibroadipative tissue. The gene involved, the mode of transmission and the deficient protein determine the clinical form, topography of the disease, severity and prognosis. Today, there are over 30 genetically distinct forms of muscular dystrophy, the main ones being Duchenne muscular dystrophy (DMD - X-linked, the most frequent and severe - 1\/3,500 male births), Becker muscular dystrophy (BMD - allelic of DMD, milder form), myotonic dystrophy type 1 (DM1 - Steinert's disease - the most common adult disorder in Quebec, with an exceptional prevalence in the Saguenay-Lac-Saint-Jean region - 1\/475 inhabitants - linked to a founder effect of the Quebec population), limb-girdle muscular dystrophy (LGMD - a heterogeneous group with over 30 subtypes), facioscapulohumeral dystrophy (FSHD) and Emery-Dreifuss dystrophy. Serum creatine kinase (CK) is the reference biological marker of muscle lysis: its elevation, sometimes massive (\u00d710 to \u00d7100 normal), is the first biological sign pointing to a primary muscle pathology. Diagnosis of certainty is based on a combination of molecular genetic analysis (sequencing of the gene involved - NGS panel of myopathies), muscle biopsy with immunohistochemical and immunofluorescent studies (muscle protein expression), and electromyography (EMG).\n <\/div>\n\n <h2>Main clinical forms<\/h2>\n <table class=\"co-table\">\n <colgroup><col style=\"width:180px;\"><col style=\"width:42%;\"><col><\/colgroup>\n <thead>\n <tr><th>Shape<\/th><th>Genetics, pathophysiology, and presentation<\/th><th>Diagnosis and treatment<\/th><\/tr>\n <\/thead>\n <tbody>\n <tr>\n <td>Duchenne muscular dystrophy (DMD)<br><small style=\"font-weight:400;color:#7a8fa0;\">1\/3 500 male births - X-linked<\/small><\/td>\n <td>Mutation of the DMD gene (Xp21.2 - the largest human gene, 2.4 Mb, 79 exons) \u2192 total absence of dystrophin (protein of the dystrophin-glycoprotein complex - DAG complex - ensures anchoring of the cytoskeleton to the extracellular matrix) \u2192 membrane instability \u2192 pathological calcium influx \u2192 muscle necrosis; X-linked recessive transmission (affected boys, driving mothers) - de novo mutations in 30 % of cases; onset between 2-5 years : delayed walking (walking after 18 months), frequent falls, difficulty running, difficulty climbing stairs; Gowers sign (boy stands up by leaning on his knees with his hands - evidence of weak hip extensors and quadriceps); calf pseudohypertrophy (replacement of muscle by adipose and connective tissue - bulky appearance but real weakness); loss of walking: 9-12 years untreated (13-15 years on corticosteroids); progressive scoliosis after loss of walking; dilated cardiomyopathy (DCM): present in 90 % after age 18 - leading cause of death; restrictive respiratory failure: FEV1 progressively decreases - non-invasive ventilation (NIV) then tracheostomy; mild cognitive impairment (mean IQ 85) and neurodevelopmental disorders (ADHD, autism - expression of DMD in the brain); CK \u00d750-100 normal (up to 50,000 IU\/L)<\/td>\n <td>Massive CK + myopathic EMG + biopsy (total absence of dystrophin in IHC\/IF + Western blot) + genetics: NGS or MLPA panel (exonic deletions 65-70 %, duplications 5-10 %, point mutations 25-30 %); neonatal screening (CK on Guthrie card - programs in Quebec); treatment : corticosteroids (deflazacort or prednisone - delay loss of walking by 2-3 years, slow progression of cardiomyopathy and respiratory failure - standard of care since 1989); targeted therapies according to mutation: \u00e9t\u00e9plirsen, casimersen, viltolarsen (exon skipping 51, 45, 53 by antisense - FDA approved); givinostat (HDAC inhibitor - FDA approval 2024); ataluren (Translarna - premature stop codon - EMA approval); golodirsen ; gene therapy (dys-micro-dystrophin - SRP-9001\/delandistrogen moxeparvovec - FDA approval 2023 in <4 yrs); cardiac monitoring (annual echo + cardiac MRI - ACEI from onset CMD); nocturnal NIV from FVC <50 % or nocturnal SpO\u2082 <95 %; physiotherapy, occupational therapy, orthoses, nutritional monitoring<\/td>\n <\/tr>\n <tr>\n <td>Becker muscular dystrophy (BMD)<br><small style=\"font-weight:400;color:#7a8fa0;\">1 in 18,000-30,000 male births.<\/small><\/td>\n <td>Same DMD gene \u2014 mutations maintaining the reading frame (in-frame deletions) \u2192 truncated but partially functional dystrophin (vs total absence in DMD); Monaco rule: out-of-frame deletion \u2192 severe DMD; in-frame deletion \u2192 milder BMD; variable onset: 5\u201315 years (cramps on exertion, exercise myoglobinuria in mild forms) to adulthood (proximal lower limb weakness); walking preserved until after 16 years (sometimes lifelong); dilated cardiomyopathy often more severe and earlier than muscle weakness in certain allelic forms of BMD (X-linked cardiomyopathy); very high CK (\u00d75\u201350) even in mild forms<\/td>\n <td>Muscle biopsy: dystrophin present but reduced in quantity or abnormal in size (vs total absence of DMD) \u2014 Western blot key to distinguish DMD vs BMD; genetics MLPA + DMD sequencing; treatment: corticosteroids if rapid progression; close cardiological monitoring (CMD often more threatening than muscle weakness) \u2014 ACE inhibitors\/beta-blockers if CMD; implantable cardioverter-defibrillator (ICD) if ejection fraction <35 %; heart transplant discussed if refractory CMD<\/td>\n <\/tr>\n <tr>\n <td>Myotonic dystrophy type 1 (DM1 - Steinert's disease)<br><small style=\"font-weight:400;color:#7a8fa0;\">Prevalence Saguenay\u2013Lac-Saint-Jean: 1\/475<\/small><\/td>\n <td>Unstable CTG triplet expansion in the DMPK gene (chromosome 19q13.3) - normal: 5-37 CTG repeats; mild DM1: 50-150; classic adult: 100-1,000; severe\/congenital form: >1,000; genetic anticipation (increase in the number of repeats with each generation - worsening of the disease with each generation transmitted by the mother); mutant transcript accumulates in the nucleus \u2192 sequestration of MBNL proteins \u2192 aberrant alternative splicing of multiple genes \u2192 multisystem damage; myotonia (inability to release muscles quickly after contraction - handshake difficult to release, difficulty in opening hands after squeezing a cold object - hammer sign on thenar eminence); predominant distal weakness (finger extensors, foot lifters - steppage) + facial muscles (elongated face, ptosis, upturned lips - \u00abshark face\u00bb) + sternocleidomastoid muscles (thin neck - swan sign); systemic involvement: cardiac conduction disorder (atrioventricular block, arrhythmias - main cause of sudden death - annual Holter ECG \u00b1 pacemaker); T1DM and hypogonadism (60 % of men); cataract (star-shaped lens in lamp slit - 80 % after age 50); excessive daytime hypersomnia (somnolence - high Epworth score - hypothalamic dysfunction); cognitive disorders and apathetic personality; constipation, megacolon, gallstones (smooth muscle involvement); restrictive respiratory failure + sleep apneas<\/td>\n <td>Molecular genetic testing: PCR + Southern blot (measurement of CTG repeat number) \u2014 gold standard \u2014 no muscle biopsy needed if typical clinical presentation; normal or moderately elevated CK (3-5x); annual ECG + Holter (atrio-ventricular block, ventricular tachycardia); brain MRI (leukoencephalopathy \u2014 subcortical T2 hyperintensities); symptomatic treatment for myotonia: mexiletine (sodium channel blocker \u2014 150\u2013300 mg 3x\/day \u2014 strong recommendation) or lamotrigine; foot drop: AFO orthotics; somnolence: modafinil or methylphenidate; pacemaker if advanced conduction disorder (AVB > PR 280 ms or bifascicular block); genetic counseling (anticipation \u2014 risk of severe congenital form if mother affected and >1,000 CTGs)<\/td>\n <\/tr>\n <tr>\n <td>Limb-girdle muscular dystrophies (LGMD)<br><small style=\"font-weight:400;color:#7a8fa0;\">>30 subtypes \u2014 LGMD R and D<\/small><\/td>\n <td>Heterogeneous group (formerly classified as LGMD 1 and 2 \u2014 new 2018 nomenclature: LGMD R = recessive, LGMD D = dominant) of over 30 genetic subtypes affecting the pelvic and scapular girdles; most frequent: LGMD R1 (calpain-3 \u2014 chromosome 15); LGMD R2 (dysferlin \u2014 chromosome 2 \u2014 membrane repair); LGMD R5 (\u03b3-sarcoglycan); LGMD R9 (FKRP \u2014 dystroglycanopathy); variable onset: childhood to adulthood; symmetrical weakness of pelvic girdle muscles (difficulty rising from a chair, climbing stairs) and scapular girdle muscles (difficulty raising arms) \u2014 waddling gait; variable CK depending on subtype (\u00d75 to \u00d750 for dysferlinopathy); cardiomyopathy in some forms (LGMD R5\u2013R8 sarcoglycanopathies); normal intelligence<\/td>\n <td>NGS panel for myopathies (sequencing of CAPN3, DYSF, SGCA\/B\/G\/D, FKRP, ANO5 genes, etc.) \u2014 often replaces biopsy as initial investigation; muscle biopsy (IHC + muscle protein panel) if genetics non-contributory; muscle MRI (mapping of muscle involvement pattern \u2014 helps to target gene for sequencing); no approved disease-modifying treatment specifically for LGMDs in 2025 \u2014 physiotherapy, occupational therapy, orthotics, cardiac and respiratory monitoring depending on subtype<\/td>\n <\/tr>\n <tr>\n <td>Facioscapulohumeral muscular dystrophy (FSHD)<br><small style=\"font-weight:400;color:#7a8fa0;\">3rd muscular dystrophy in frequency - 1\/20,000<\/small><\/td>\n <td>Unique epigenetic mechanism: contraction of the number of D4Z4 repeats on chromosome 4q35 (FSHD1 - 95 % of cases) or SMCHD1 mutation (FSHD2 - 5 %) \u2192 hypomethylation \u2192 aberrant expression of the DUX4 gene (normally silent embryonic transcription factor) in adult muscle \u2192 muscle toxicity; autosomal dominant transmission (FSHD1); onset in adolescence or young adulthood (rarely before age 10); characteristic descending topography: facial muscles (difficulty closing eyes in sleep - lagophthalmos - wheezing, puffing cheeks, abnormal laughter) \u2192 scapular muscles (detachment of scapulae - scapula alata - inability to raise arms above shoulders) \u2192 abdominal muscles (Beevor's sign - umbilicus rises when trunk flexed) \u2192 lower limb muscles (tibialis anterior - steppage); frequent asymmetric involvement (characteristic); loss of walking in 20 %; hearing loss (high frequencies - 75 %); retinal telangiectasias and microaneurysms (Coats' disease); no significant cardiac involvement; normal or slightly elevated CK (\u00d72-3)<\/td>\n <td>Genetic testing: Southern blot + methylation analysis (D4Z4 repeat size \u2014 <11 repeat units on permissive 4qA allele \u2014 confirmatory); FSHD2: SMCHD1 sequencing + methylation; muscle biopsy rarely needed if genetic testing is confirmed; muscle MRI (asymmetric distribution, fat infiltration in affected muscles); no approved treatment as of 2025 \u2014 DUX4 inhibitor and gene therapy trials ongoing (givinostat, RG6206); physiotherapy, tibial braces, surgical scapular stabilization (scapulopexy) for significant functional impairment<\/td>\n <\/tr>\n <\/tbody>\n <\/table>\n\n <h2>Diagnostic workup for myopathies<\/h2>\n <ul class=\"co-list\">\n <li>Serum creatine kinase (CK): first marker to measure in case of suspected myopathy \u2014 normal values: male 30\u2013200 U\/L, female 30\u2013170 U\/L; in muscular dystrophies: slightly elevated (\u00d72\u20135 \u2014 FSHD, DM1) to massively elevated (\u00d750\u2013100 \u2014 DMD, LGMD R2 dysferlinopathy); very high CK in obligate female carriers of DMD (50\u201370 % have elevated CK); CK may be normal in certain metabolic myopathies and congenital myopathies; transient elevation after intense exercise, trauma, or IM injection (false positives)<\/li>\n <li>Electromyography (EMG): distinguishes myopathic involvement (short, polyphasic, low-amplitude motor unit potentials - early recruitment) from neuropathic involvement (wide MUPs, denervation); detects electrical myotonia (\u00abdive bomber\u00bb sound with decremental myotonic discharges) - characteristic of DM1 and congenital myotonia<\/li>\n <li>Muscle MRI: precise mapping of the topography and severity of the involvement (T1 fat signal and STIR edema\/inflammation) - guides the choice of biopsy site and suggests the type of dystrophy according to the pattern of involvement; increasingly used as a tool for monitoring progression<\/li>\n <li>Muscle biopsy: histological examination (hematoxylin-eosin \u2014 necrosis, regeneration, fibrosis, inflammatory infiltrate) + histochemistry (ATPase \u2014 fiber typing) + immunohistochemistry (IHC \u2014 dystrophin, sarcoglycans, dysferlin, calpain-3, merosin, collagen VI panel, etc.) + immunofluorescence + Western blot (protein quantification and size); muscle to biopsy: moderately affected muscle (not the weakest \u2014 advanced fibrosis, little contribution); guides genetic workup<\/li>\n <li>Molecular Genetic Analysis: Gold Standard of Diagnostic Certainty \u2014 MLPA (Exon Deletion\/Duplication Detection \u2014 DMD\/BMD); Triplet-Repeat PCR (DM1\/DM2); Myopathy NGS Panel (Simultaneous Sequencing of >100 Genes \u2014 Becoming the First-Line Test in Many Centers Before Biopsy); Whole Exome or Whole Genome Sequencing if Panel is Non-Contributory<\/li>\n <li>Multisystemic assessment by phenotype: ECG + Holter + echocardiography (cardiomyopathy \u2014 DMD, DMB, DM1, LGMD sarcoglycanopathies); PFT + spirometry + polysomnography (restrictive respiratory insufficiency + apneas); swallowing EMG if dysphagia (DM1); ophthalmological assessment (cataracts \u2014 DM1; retinopathy \u2014 FSHD); cognitive and neuropsychological assessment<\/li>\n <\/ul>\n\n <div class=\"co-infobox\">\n <span class=\"ico\">\u2139\ufe0f<\/span>\n <span>Quebec has a unique global prevalence of <strong>Myotonic dystrophy type 1 (Steinert's disease)<\/strong> in the region of <strong>Saguenay-Lac-Saint-Jean<\/strong> (1 in 475 inhabitants - 25 times the global prevalence) due to a founder effect: a common ancestor carrying the mutation arrived in New France in the 17th century, and their descendants populated the geographically isolated region. <strong>Neuromuscular Diseases Clinic of Jonqui\u00e8re<\/strong> (CMNM) is a global center of excellence for the care and research of DM1. <strong>Interdisciplinary Research Group on Neuromuscular Diseases (GRIMN)<\/strong> coordinates care and research in this region.<\/span>\n <\/div>\n\n <div class=\"co-urgence\">\n <div class=\"co-urgence-titre\">Urgent complications of muscular dystrophies<\/div>\n <p>Dial <strong>911<\/strong> immediately in case of: acute respiratory distress (rapid worsening of dyspnea, SpO\u2082 <90 %, retractions, cyanosis) in a patient known to have muscular dystrophy with respiratory involvement \u2014 emergency initiation or adjustment of non-invasive ventilation (NIV); palpitations, syncope, or malaise in a patient with DM1 or myotonic dystrophy \u2014 risk of complete atrioventricular block or ventricular tachycardia; myoglobinuria (cola-red-brown urine) after exertion or general anesthesia in a patient with known very high CK \u2014 risk of acute kidney injury due to rhabdomyolysis.<\/p>\n <p><strong>Significant anesthetic risk:<\/strong> Patients with muscular dystrophy are at high risk for complications during general anesthesia (malignant hyperthermia with halogenated agents, rhabdomyolysis with succinylcholine, cardiac and respiratory decompensation) \u2014 any MD patient should wear a medical alert card and inform any physician or dentist of their diagnosis.<\/p>\n <\/div>\n\n <h2>Consult at Clinique Omicron<\/h2>\n <p>Clinique Omicron physicians evaluate patients presenting with progressive muscle weakness, prescribe first-line investigations (CK, EMG, genetic panel), refer to a neurologist specializing in neuromuscular diseases, and ensure coordination of multidisciplinary care (cardiology, pulmonology, physiotherapy, medical genetics, genetic counseling). For Quebec patients with Steinert's myotonic dystrophy, a referral to the Jonqui\u00e8re Neuromuscular Disease Clinic can be facilitated. Consultations are available at our service points in Quebec, as well as via telemedicine. To book an appointment, visit <a href=\"https:\/\/cliniqueomicron.ca\">cliniqueomicron.ca<\/a>.<\/p>\n\n <p class=\"co-disclaimer\">The content of this page is for informational purposes only and does not substitute for the advice of a qualified healthcare professional. The diagnosis and management of muscular dystrophies require a multidisciplinary team specializing in neuromuscular diseases.<\/p>\n<\/div>\n<\/body>\n<\/html>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Dystrophie musculaire : types, diagnostic et traitement | Clinique Omicron Neurologie & G\u00e9n\u00e9tique m\u00e9dicale & M\u00e9decine interne Dystrophie musculaire Les dystrophies musculaires (DM) constituent un groupe h\u00e9t\u00e9rog\u00e8ne de maladies g\u00e9n\u00e9tiques h\u00e9r\u00e9ditaires caract\u00e9ris\u00e9es par une d\u00e9g\u00e9n\u00e9rescence progressive du tissu musculaire squelettique \u2014 et parfois cardiaque et lisse \u2014 conduisant \u00e0 une faiblesse et une atrophie musculaire… <a href=\"https:\/\/cliniqueomicron.ca\/en\/dystrophie-musculaire\/\" rel=\"bookmark\">Read More \"<span class=\"screen-reader-text\">Muscular Dystrophy: Types, Diagnosis, and Treatment | Clinique Omicron<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"neve_meta_sidebar":"","neve_meta_container":"","neve_meta_enable_content_width":"off","neve_meta_content_width":100,"neve_meta_title_alignment":"","neve_meta_author_avatar":"","neve_post_elements_order":"","neve_meta_disable_header":"","neve_meta_disable_footer":"","neve_meta_disable_title":"","_themeisle_gutenberg_block_has_review":false,"_metasync_otto_title":"Dystrophie musculaire : types, diagnostic et traitement | Clinique Omicron","_metasync_otto_description":"Les dystrophies musculaires sont des maladies g\u00e9n\u00e9tiques causant une faiblesse musculaire progressive. Duchenne, Becker, myotonique, ceinture : diagnostic, g...","_metasync_otto_keywords":"","_metasync_otto_og_title":"Dystrophie musculaire : types, | Brossard | Clinique Omicron","_metasync_otto_og_description":"Les dystrophies musculaires sont des maladies g\u00e9n\u00e9tiques causant une faiblesse musculaire progressive. Duchenne, Becker, myotonique, ceinture : diagnostic, g...","_metasync_otto_twitter_title":"Dystrophie musculaire : types, | Brossard | Clinique Omicron","_metasync_otto_twitter_description":"Les dystrophies musculaires sont des maladies g\u00e9n\u00e9tiques causant une faiblesse musculaire progressive. 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\n\t\t\t\t\t\n\n\n\n\nMuscular Dystrophy: Types, Diagnosis, and Treatment | Clinique Omicron<\/title>\n<meta name=\"description\" content=\"Muscular dystrophies are genetic diseases that cause progressive muscle weakness. Duchenne, Becker, myotonic, and limb-girdle: diagnosis, genetics, and management in Quebec.\">\n<meta name=\"keywords\" content=\"dystrophie musculaire, dystrophie musculaire Duchenne, dystrophie musculaire Becker, dystrophie myotonique Steinert, dystrophie musculaire ceinture, CK dystrophie musculaire, biopsie musculaire, dystrophie musculaire traitement Qu\u00e9bec\">\n<link rel=\"preconnect\" href=\"https:\/\/fonts.googleapis.com\">\n<link href=\"https:\/\/fonts.googleapis.com\/css2?family=Cinzel:wght@600&family=Poppins:wght@400;500;600;700&display=swap\" rel=\"stylesheet\">\n<style>\n.co-wrap * { font-family: 'Poppins', sans-serif; box-sizing: border-box; }\n.co-wrap { max-width: 1100px; margin: 0 auto; padding: 30px 0 60px; }\n.co-label { font-family: 'Cinzel', serif; font-size: 14px; font-weight: bold; letter-spacing: 1px; text-transform: uppercase; color: #4D6577; margin-bottom: 14px; display: block; }\n.co-wrap h1 { font-size: 32px; font-weight: 500; color: #323C52; margin: 0 0 22px; line-height: 1.2; }\n.co-intro { font-size: 16px; line-height: 1.75; color: #4D6577; margin-bottom: 36px; padding-bottom: 32px; border-bottom: 1px solid rgba(77,101,119,.2); }\n.co-wrap h2 { font-size: 20px; font-weight: 600; color: #323C52; margin: 32px 0 12px; }\n.co-wrap p { font-size: 15px; color: #4D6577; line-height: 1.7; margin-bottom: 14px; }\n.co-list { list-style: none; padding: 0; margin: 12px 0 24px; }\n.co-list li { font-size: 15px; color: #4D6577; padding: 10px 14px 10px 38px; margin-bottom: 8px; border-radius: 6px; position: relative; background: rgba(77,101,119,.06); border-left: 3px solid #4D6577; }\n.co-list li::before { content: \"\u2713\"; position: absolute; left: 12px; font-weight: 700; color: #4D6577; }\n.co-table { width: 100%; border-collapse: collapse; margin: 14px 0 22px; font-size: 14px; border-radius: 8px; overflow: hidden; table-layout: fixed; }\n.co-table thead tr { background: #323C52; color: #fff; }\n.co-table thead th { padding: 11px 16px; text-align: left; font-weight: 600; font-size: 13px; }\n.co-table tbody tr:nth-child(even) { background: rgba(77,101,119,.06); }\n.co-table tbody tr:nth-child(odd) { background: #fff; }\n.co-table td { padding: 10px 16px; color: #4D6577; border-bottom: 1px solid rgba(77,101,119,.12); font-size: 14px; vertical-align: top; }\n.co-table td:first-child { font-weight: 600; color: #323C52; }\n.co-infobox { display: flex; gap: 12px; background: rgba(77,101,119,.06); border-radius: 8px; border-left: 4px solid #4D6577; padding: 14px 18px; margin: 18px 0 28px; font-size: 14px; color: #4D6577; line-height: 1.65; }\n.co-infobox .ico { font-size: 18px; flex-shrink: 0; }\n.co-urgence { background: #fff8f8; border-left: 5px solid #c0392b; border-radius: 6px; padding: 20px 26px; margin: 24px 0 32px; }\n.co-urgence .co-urgence-titre { font-size: 13px; font-weight: 700; color: #c0392b; letter-spacing: 1.5px; text-transform: uppercase; margin-bottom: 10px; }\n.co-urgence p { color: #5a2020; font-size: 14px; margin: 0 0 10px; line-height: 1.7; }\n.co-urgence p:last-child { margin-bottom: 0; }\n.co-disclaimer { font-size: 13px; color: #8a9aaa; font-style: italic; border-top: 1px solid rgba(77,101,119,.15); padding-top: 24px; margin-top: 40px; line-height: 1.6; }\n<\/style>\n<\/head>\n<body>\n<div class=\"co-wrap\">\n <span class=\"co-label\">Neurology & Medical Genetics & Internal Medicine<\/span>\n <h1>Muscular dystrophy<\/h1>\n\n <div class=\"co-intro\">\n Muscular dystrophies (MDs) are a heterogeneous group of hereditary genetic diseases characterized by progressive degeneration of skeletal - and sometimes cardiac and smooth - muscle tissue, leading to muscle weakness and atrophy with variable progression depending on the form. All share a common anatomopathological basis: necrosis of muscle fibers, insufficient regeneration and progressive replacement of muscle by fibroadipative tissue. The gene involved, the mode of transmission and the deficient protein determine the clinical form, topography of the disease, severity and prognosis. Today, there are over 30 genetically distinct forms of muscular dystrophy, the main ones being Duchenne muscular dystrophy (DMD - X-linked, the most frequent and severe - 1\/3,500 male births), Becker muscular dystrophy (BMD - allelic of DMD, milder form), myotonic dystrophy type 1 (DM1 - Steinert's disease - the most common adult disorder in Quebec, with an exceptional prevalence in the Saguenay-Lac-Saint-Jean region - 1\/475 inhabitants - linked to a founder effect of the Quebec population), limb-girdle muscular dystrophy (LGMD - a heterogeneous group with over 30 subtypes), facioscapulohumeral dystrophy (FSHD) and Emery-Dreifuss dystrophy. Serum creatine kinase (CK) is the reference biological marker of muscle lysis: its elevation, sometimes massive (\u00d710 to \u00d7100 normal), is the first biological sign pointing to a primary muscle pathology. Diagnosis of certainty is based on a combination of molecular genetic analysis (sequencing of the gene involved - NGS panel of myopathies), muscle biopsy with immunohistochemical and immunofluorescent studies (muscle protein expression), and electromyography (EMG).\n <\/div>\n\n <h2>Main clinical forms<\/h2>\n <table class=\"co-table\">\n <colgroup><col style=\"width:180px;\"><col style=\"width:42%;\"><col><\/colgroup>\n <thead>\n <tr><th>Shape<\/th><th>Genetics, pathophysiology, and presentation<\/th><th>Diagnosis and treatment<\/th><\/tr>\n <\/thead>\n <tbody>\n <tr>\n <td>Duchenne muscular dystrophy (DMD)<br><small style=\"font-weight:400;color:#7a8fa0;\">1\/3 500 male births - X-linked<\/small><\/td>\n <td>Mutation of the DMD gene (Xp21.2 - the largest human gene, 2.4 Mb, 79 exons) \u2192 total absence of dystrophin (protein of the dystrophin-glycoprotein complex - DAG complex - ensures anchoring of the cytoskeleton to the extracellular matrix) \u2192 membrane instability \u2192 pathological calcium influx \u2192 muscle necrosis; X-linked recessive transmission (affected boys, driving mothers) - de novo mutations in 30 % of cases; onset between 2-5 years : delayed walking (walking after 18 months), frequent falls, difficulty running, difficulty climbing stairs; Gowers sign (boy stands up by leaning on his knees with his hands - evidence of weak hip extensors and quadriceps); calf pseudohypertrophy (replacement of muscle by adipose and connective tissue - bulky appearance but real weakness); loss of walking: 9-12 years untreated (13-15 years on corticosteroids); progressive scoliosis after loss of walking; dilated cardiomyopathy (DCM): present in 90 % after age 18 - leading cause of death; restrictive respiratory failure: FEV1 progressively decreases - non-invasive ventilation (NIV) then tracheostomy; mild cognitive impairment (mean IQ 85) and neurodevelopmental disorders (ADHD, autism - expression of DMD in the brain); CK \u00d750-100 normal (up to 50,000 IU\/L)<\/td>\n <td>Massive CK + myopathic EMG + biopsy (total absence of dystrophin in IHC\/IF + Western blot) + genetics: NGS or MLPA panel (exonic deletions 65-70 %, duplications 5-10 %, point mutations 25-30 %); neonatal screening (CK on Guthrie card - programs in Quebec); treatment : corticosteroids (deflazacort or prednisone - delay loss of walking by 2-3 years, slow progression of cardiomyopathy and respiratory failure - standard of care since 1989); targeted therapies according to mutation: \u00e9t\u00e9plirsen, casimersen, viltolarsen (exon skipping 51, 45, 53 by antisense - FDA approved); givinostat (HDAC inhibitor - FDA approval 2024); ataluren (Translarna - premature stop codon - EMA approval); golodirsen ; gene therapy (dys-micro-dystrophin - SRP-9001\/delandistrogen moxeparvovec - FDA approval 2023 in <4 yrs); cardiac monitoring (annual echo + cardiac MRI - ACEI from onset CMD); nocturnal NIV from FVC <50 % or nocturnal SpO\u2082 <95 %; physiotherapy, occupational therapy, orthoses, nutritional monitoring<\/td>\n <\/tr>\n <tr>\n <td>Becker muscular dystrophy (BMD)<br><small style=\"font-weight:400;color:#7a8fa0;\">1 in 18,000-30,000 male births.<\/small><\/td>\n <td>Same DMD gene \u2014 mutations maintaining the reading frame (in-frame deletions) \u2192 truncated but partially functional dystrophin (vs total absence in DMD); Monaco rule: out-of-frame deletion \u2192 severe DMD; in-frame deletion \u2192 milder BMD; variable onset: 5\u201315 years (cramps on exertion, exercise myoglobinuria in mild forms) to adulthood (proximal lower limb weakness); walking preserved until after 16 years (sometimes lifelong); dilated cardiomyopathy often more severe and earlier than muscle weakness in certain allelic forms of BMD (X-linked cardiomyopathy); very high CK (\u00d75\u201350) even in mild forms<\/td>\n <td>Muscle biopsy: dystrophin present but reduced in quantity or abnormal in size (vs total absence of DMD) \u2014 Western blot key to distinguish DMD vs BMD; genetics MLPA + DMD sequencing; treatment: corticosteroids if rapid progression; close cardiological monitoring (CMD often more threatening than muscle weakness) \u2014 ACE inhibitors\/beta-blockers if CMD; implantable cardioverter-defibrillator (ICD) if ejection fraction <35 %; heart transplant discussed if refractory CMD<\/td>\n <\/tr>\n <tr>\n <td>Myotonic dystrophy type 1 (DM1 - Steinert's disease)<br><small style=\"font-weight:400;color:#7a8fa0;\">Prevalence Saguenay\u2013Lac-Saint-Jean: 1\/475<\/small><\/td>\n <td>Unstable CTG triplet expansion in the DMPK gene (chromosome 19q13.3) - normal: 5-37 CTG repeats; mild DM1: 50-150; classic adult: 100-1,000; severe\/congenital form: >1,000; genetic anticipation (increase in the number of repeats with each generation - worsening of the disease with each generation transmitted by the mother); mutant transcript accumulates in the nucleus \u2192 sequestration of MBNL proteins \u2192 aberrant alternative splicing of multiple genes \u2192 multisystem damage; myotonia (inability to release muscles quickly after contraction - handshake difficult to release, difficulty in opening hands after squeezing a cold object - hammer sign on thenar eminence); predominant distal weakness (finger extensors, foot lifters - steppage) + facial muscles (elongated face, ptosis, upturned lips - \u00abshark face\u00bb) + sternocleidomastoid muscles (thin neck - swan sign); systemic involvement: cardiac conduction disorder (atrioventricular block, arrhythmias - main cause of sudden death - annual Holter ECG \u00b1 pacemaker); T1DM and hypogonadism (60 % of men); cataract (star-shaped lens in lamp slit - 80 % after age 50); excessive daytime hypersomnia (somnolence - high Epworth score - hypothalamic dysfunction); cognitive disorders and apathetic personality; constipation, megacolon, gallstones (smooth muscle involvement); restrictive respiratory failure + sleep apneas<\/td>\n <td>Molecular genetic testing: PCR + Southern blot (measurement of CTG repeat number) \u2014 gold standard \u2014 no muscle biopsy needed if typical clinical presentation; normal or moderately elevated CK (3-5x); annual ECG + Holter (atrio-ventricular block, ventricular tachycardia); brain MRI (leukoencephalopathy \u2014 subcortical T2 hyperintensities); symptomatic treatment for myotonia: mexiletine (sodium channel blocker \u2014 150\u2013300 mg 3x\/day \u2014 strong recommendation) or lamotrigine; foot drop: AFO orthotics; somnolence: modafinil or methylphenidate; pacemaker if advanced conduction disorder (AVB > PR 280 ms or bifascicular block); genetic counseling (anticipation \u2014 risk of severe congenital form if mother affected and >1,000 CTGs)<\/td>\n <\/tr>\n <tr>\n <td>Limb-girdle muscular dystrophies (LGMD)<br><small style=\"font-weight:400;color:#7a8fa0;\">>30 subtypes \u2014 LGMD R and D<\/small><\/td>\n <td>Heterogeneous group (formerly classified as LGMD 1 and 2 \u2014 new 2018 nomenclature: LGMD R = recessive, LGMD D = dominant) of over 30 genetic subtypes affecting the pelvic and scapular girdles; most frequent: LGMD R1 (calpain-3 \u2014 chromosome 15); LGMD R2 (dysferlin \u2014 chromosome 2 \u2014 membrane repair); LGMD R5 (\u03b3-sarcoglycan); LGMD R9 (FKRP \u2014 dystroglycanopathy); variable onset: childhood to adulthood; symmetrical weakness of pelvic girdle muscles (difficulty rising from a chair, climbing stairs) and scapular girdle muscles (difficulty raising arms) \u2014 waddling gait; variable CK depending on subtype (\u00d75 to \u00d750 for dysferlinopathy); cardiomyopathy in some forms (LGMD R5\u2013R8 sarcoglycanopathies); normal intelligence<\/td>\n <td>NGS panel for myopathies (sequencing of CAPN3, DYSF, SGCA\/B\/G\/D, FKRP, ANO5 genes, etc.) \u2014 often replaces biopsy as initial investigation; muscle biopsy (IHC + muscle protein panel) if genetics non-contributory; muscle MRI (mapping of muscle involvement pattern \u2014 helps to target gene for sequencing); no approved disease-modifying treatment specifically for LGMDs in 2025 \u2014 physiotherapy, occupational therapy, orthotics, cardiac and respiratory monitoring depending on subtype<\/td>\n <\/tr>\n <tr>\n <td>Facioscapulohumeral muscular dystrophy (FSHD)<br><small style=\"font-weight:400;color:#7a8fa0;\">3rd muscular dystrophy in frequency - 1\/20,000<\/small><\/td>\n <td>Unique epigenetic mechanism: contraction of the number of D4Z4 repeats on chromosome 4q35 (FSHD1 - 95 % of cases) or SMCHD1 mutation (FSHD2 - 5 %) \u2192 hypomethylation \u2192 aberrant expression of the DUX4 gene (normally silent embryonic transcription factor) in adult muscle \u2192 muscle toxicity; autosomal dominant transmission (FSHD1); onset in adolescence or young adulthood (rarely before age 10); characteristic descending topography: facial muscles (difficulty closing eyes in sleep - lagophthalmos - wheezing, puffing cheeks, abnormal laughter) \u2192 scapular muscles (detachment of scapulae - scapula alata - inability to raise arms above shoulders) \u2192 abdominal muscles (Beevor's sign - umbilicus rises when trunk flexed) \u2192 lower limb muscles (tibialis anterior - steppage); frequent asymmetric involvement (characteristic); loss of walking in 20 %; hearing loss (high frequencies - 75 %); retinal telangiectasias and microaneurysms (Coats' disease); no significant cardiac involvement; normal or slightly elevated CK (\u00d72-3)<\/td>\n <td>Genetic testing: Southern blot + methylation analysis (D4Z4 repeat size \u2014 <11 repeat units on permissive 4qA allele \u2014 confirmatory); FSHD2: SMCHD1 sequencing + methylation; muscle biopsy rarely needed if genetic testing is confirmed; muscle MRI (asymmetric distribution, fat infiltration in affected muscles); no approved treatment as of 2025 \u2014 DUX4 inhibitor and gene therapy trials ongoing (givinostat, RG6206); physiotherapy, tibial braces, surgical scapular stabilization (scapulopexy) for significant functional impairment<\/td>\n <\/tr>\n <\/tbody>\n <\/table>\n\n <h2>Diagnostic workup for myopathies<\/h2>\n <ul class=\"co-list\">\n <li>Serum creatine kinase (CK): first marker to measure in case of suspected myopathy \u2014 normal values: male 30\u2013200 U\/L, female 30\u2013170 U\/L; in muscular dystrophies: slightly elevated (\u00d72\u20135 \u2014 FSHD, DM1) to massively elevated (\u00d750\u2013100 \u2014 DMD, LGMD R2 dysferlinopathy); very high CK in obligate female carriers of DMD (50\u201370 % have elevated CK); CK may be normal in certain metabolic myopathies and congenital myopathies; transient elevation after intense exercise, trauma, or IM injection (false positives)<\/li>\n <li>Electromyography (EMG): distinguishes myopathic involvement (short, polyphasic, low-amplitude motor unit potentials - early recruitment) from neuropathic involvement (wide MUPs, denervation); detects electrical myotonia (\u00abdive bomber\u00bb sound with decremental myotonic discharges) - characteristic of DM1 and congenital myotonia<\/li>\n <li>Muscle MRI: precise mapping of the topography and severity of the involvement (T1 fat signal and STIR edema\/inflammation) - guides the choice of biopsy site and suggests the type of dystrophy according to the pattern of involvement; increasingly used as a tool for monitoring progression<\/li>\n <li>Muscle biopsy: histological examination (hematoxylin-eosin \u2014 necrosis, regeneration, fibrosis, inflammatory infiltrate) + histochemistry (ATPase \u2014 fiber typing) + immunohistochemistry (IHC \u2014 dystrophin, sarcoglycans, dysferlin, calpain-3, merosin, collagen VI panel, etc.) + immunofluorescence + Western blot (protein quantification and size); muscle to biopsy: moderately affected muscle (not the weakest \u2014 advanced fibrosis, little contribution); guides genetic workup<\/li>\n <li>Molecular Genetic Analysis: Gold Standard of Diagnostic Certainty \u2014 MLPA (Exon Deletion\/Duplication Detection \u2014 DMD\/BMD); Triplet-Repeat PCR (DM1\/DM2); Myopathy NGS Panel (Simultaneous Sequencing of >100 Genes \u2014 Becoming the First-Line Test in Many Centers Before Biopsy); Whole Exome or Whole Genome Sequencing if Panel is Non-Contributory<\/li>\n <li>Multisystemic assessment by phenotype: ECG + Holter + echocardiography (cardiomyopathy \u2014 DMD, DMB, DM1, LGMD sarcoglycanopathies); PFT + spirometry + polysomnography (restrictive respiratory insufficiency + apneas); swallowing EMG if dysphagia (DM1); ophthalmological assessment (cataracts \u2014 DM1; retinopathy \u2014 FSHD); cognitive and neuropsychological assessment<\/li>\n <\/ul>\n\n <div class=\"co-infobox\">\n <span class=\"ico\">\u2139\ufe0f<\/span>\n <span>Quebec has a unique global prevalence of <strong>Myotonic dystrophy type 1 (Steinert's disease)<\/strong> in the region of <strong>Saguenay-Lac-Saint-Jean<\/strong> (1 in 475 inhabitants - 25 times the global prevalence) due to a founder effect: a common ancestor carrying the mutation arrived in New France in the 17th century, and their descendants populated the geographically isolated region. <strong>Neuromuscular Diseases Clinic of Jonqui\u00e8re<\/strong> (CMNM) is a global center of excellence for the care and research of DM1. <strong>Interdisciplinary Research Group on Neuromuscular Diseases (GRIMN)<\/strong> coordinates care and research in this region.<\/span>\n <\/div>\n\n <div class=\"co-urgence\">\n <div class=\"co-urgence-titre\">Urgent complications of muscular dystrophies<\/div>\n <p>Dial <strong>911<\/strong> immediately in case of: acute respiratory distress (rapid worsening of dyspnea, SpO\u2082 <90 %, retractions, cyanosis) in a patient known to have muscular dystrophy with respiratory involvement \u2014 emergency initiation or adjustment of non-invasive ventilation (NIV); palpitations, syncope, or malaise in a patient with DM1 or myotonic dystrophy \u2014 risk of complete atrioventricular block or ventricular tachycardia; myoglobinuria (cola-red-brown urine) after exertion or general anesthesia in a patient with known very high CK \u2014 risk of acute kidney injury due to rhabdomyolysis.<\/p>\n <p><strong>Significant anesthetic risk:<\/strong> Patients with muscular dystrophy are at high risk for complications during general anesthesia (malignant hyperthermia with halogenated agents, rhabdomyolysis with succinylcholine, cardiac and respiratory decompensation) \u2014 any MD patient should wear a medical alert card and inform any physician or dentist of their diagnosis.<\/p>\n <\/div>\n\n <h2>Consult at Clinique Omicron<\/h2>\n <p>Clinique Omicron physicians evaluate patients presenting with progressive muscle weakness, prescribe first-line investigations (CK, EMG, genetic panel), refer to a neurologist specializing in neuromuscular diseases, and ensure coordination of multidisciplinary care (cardiology, pulmonology, physiotherapy, medical genetics, genetic counseling). For Quebec patients with Steinert's myotonic dystrophy, a referral to the Jonqui\u00e8re Neuromuscular Disease Clinic can be facilitated. Consultations are available at our service points in Quebec, as well as via telemedicine. To book an appointment, visit <a href=\"https:\/\/cliniqueomicron.ca\">cliniqueomicron.ca<\/a>.<\/p>\n\n <p class=\"co-disclaimer\">The content of this page is for informational purposes only and does not substitute for the advice of a qualified healthcare professional. The diagnosis and management of muscular dystrophies require a multidisciplinary team specializing in neuromuscular diseases.<\/p>\n<\/div>\n<\/body>\n<\/html>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Dystrophie musculaire : types, diagnostic et traitement | Clinique Omicron Neurologie & G\u00e9n\u00e9tique m\u00e9dicale & M\u00e9decine interne Dystrophie musculaire Les dystrophies musculaires (DM) constituent un groupe h\u00e9t\u00e9rog\u00e8ne de maladies g\u00e9n\u00e9tiques h\u00e9r\u00e9ditaires caract\u00e9ris\u00e9es par une d\u00e9g\u00e9n\u00e9rescence progressive du tissu musculaire squelettique \u2014 et parfois cardiaque et lisse \u2014 conduisant \u00e0 une faiblesse et une atrophie musculaire… <a href=\"https:\/\/cliniqueomicron.ca\/en\/dystrophie-musculaire\/\" rel=\"bookmark\">Read More \"<span class=\"screen-reader-text\">Muscular Dystrophy: Types, Diagnosis, and Treatment | Clinique Omicron<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"neve_meta_sidebar":"","neve_meta_container":"","neve_meta_enable_content_width":"off","neve_meta_content_width":100,"neve_meta_title_alignment":"","neve_meta_author_avatar":"","neve_post_elements_order":"","neve_meta_disable_header":"","neve_meta_disable_footer":"","neve_meta_disable_title":"","_themeisle_gutenberg_block_has_review":false,"_metasync_otto_title":"Dystrophie musculaire : types, diagnostic et traitement | Clinique Omicron","_metasync_otto_description":"Les dystrophies musculaires sont des maladies g\u00e9n\u00e9tiques causant une faiblesse musculaire progressive. 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