Comprehensive List of Neuromuscular Disorders Covered by Muscular Dystrophy Canada

The purpose of the following list is to identify all the neuromuscular disorders that are served by Muscular Dystrophy Canada and may be eligible for funding. Individuals with these disorders may register with Muscular Dystrophy Canada (free of charge) and be eligible to receive services.

The list is reviewed and updated annually by Muscular Dystrophy Canada’s Medical and Scientific Advisory Committee. Disorders not currently listed may be brought forward to the Committee for consideration throughout the year by request.

Muscular Dystrophy Canada funds services to support Canadians with neuromuscular disorders. Not all disorders listed will be the focus of specific research initiatives or direct services from Muscular Dystrophy Canada. Eligibility for direct funding will be determined based on criteria of the specific program, for example, Muscular Dystrophy Canada’s Equipment Program or the Neuromuscular Research Partnership.

For more information about our research programs and services, please contact the Regional Office in your area.

Name of Disorder	Also Known As
Abetalipoproteinemia	Bassen Kornzwieg
Adenylate Deaminase Deficiency	Myodenylate Deaminase Deficiency
Adrenoleukodystrophy
Alphalipoproteinemia	Tangier's Disease
Amyloidosis
Andermann Syndrome	Peripheral neuropathy and agenesis of the corpus callosum Charlevoix - Saguenay Syndrome/Disease
Andersen Disease/Syndrome	Glycogen Storage Disease Type IV Branching Enzyme Deficiency
Arthrogryposis Multiplex Congenita
Ataxia Talengiactasia
Ataxia with congenital glaucoma
Ataxia with optic atrophy and sensorineural deafness
Ataxia with vitamin E deficiency
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Axonal Motor-Sensory Neuropathy with Deafness and Mental Retardation
Barth Syndrome
Becker Muscular Dystrophy
Benign Congenital Myopathy
Bethlem Myopathy
Botulism
Brachial Plexopathy
Branching Enzyme Deficiency	Glycogen Storage Disease Type IV Andersen Disease/Syndrome
Brody Disease
Carnitine Palmitoyl Transferase Deficiency
Carnitine Deficiency
Central Core Disease
Centronuclear Myopathy	Myotubular Myopathy
Charcot-Marie-Tooth Disease	Hereditary Motor and Sensory Neuropathy Congenital insensitivity to pain and anhidrosis
Charlevoix-Saguenay Syndrome	Peripheral neuropathy and agenesis of the corpus callosum Andermann syndrome
Chondrodystrophic Myotonia	Schwartz-Jampel Syndrome
Chronic Inflammatory Demyelinating Polyneuropathies
Chudley Syndrome
Congenital Fibre Type Disproportion Myopathy
Congenital Fibrosis of the Extraocular Muscles
Congenital Hypomyelinating neuropathy	Hereditary motor and sensory neuropathy Charcot-Marie-Tooth Disease
Congenital insensitivity to pain and anhidrosis	Hereditary sensory and autonomic neuropathy
Congenital Muscular Dystrophy
Congenital Myasthenic Syndrome	Congenital Myasthenia
Congenital Myopathy
Critical illness polyneuropathy and/or myopathy
Danon Disease	Type IIB Glycogenosis
Debranching Enzyme Deficiency	Type III Glycogenosis
Dejerine-Sottas Disease	Hereditary Motor and Sensory Neuropathy Charcot-Marie-Tooth Disease
Dermatomyositis
Desmin Storage Myopathy	Myofibrillar Myopathy
Distal Myopathy
Distal Myopathy, other
Distal Spinal Muscular Atrophy	Spinal Muscular Atrophy, Distal
Duchenne Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy
Exertional Myoglobinuria
Facioscapulohumeral Muscular Dystrophy
Familial amyloid neuropathy
Familial dilated cardiomyopathy with muscular dystrophy
Familial Dysautonomia	Hereditary Sensory and Autonomic Neuropathy Riley-Day syndrome
Fingerprint Myopathy
Forbe's Disease	Glycogen Storage Disease Type III
Friedreich's Ataxia
Gamstorp Disease	Hyperkalemic periodic paralysis
Giant Axonal Neuropathy
Glycogen Storage Disease (with neuromuscular involvement)
Glycogenosis (with neuromuscular involvement)	Pompe's disease Acid Maltase Deficiency
Guillain-Barré Syndrome	Acute Inflammatory Demyelinating Polyradiculoneuropathy
Hereditary Motor and Sensory Neuropathies Type I	Peroneal Muscular Atrophy Charcot-Marie-Tooth Type I and subtypes
Hereditary Motor and Sensory Neuropathies Type II	Neuronal Type of Peroneal Muscular Atrophy Charcot-Marie-Tooth Type II and subtypes
Hereditary Motor and Sensory Neuropathies Type III	Dejerine-Sottas disease or Hypertrophic neuropathy of infancy Charcot-Marie-Tooth Type III
Hereditary Motor and Sensory Neuropathies Type IV	Refsum's Disease Hypertrophic neuropathy with excess phytanic acid Charcot-Marie-Tooth Type IV
Hereditary Motor and Sensory Neuropathy with spastic paraplegia Type V	Charcot-Marie-Tooth Disease Type V
Hereditary neuralgic amyotrophy	Parsonage-Turner syndrome
Hereditary Neuropathy with liability to pressure palsy
Hereditary Sensory and Autonomic Neuropathy Type I
Hereditary Sensory and Autonomic Neuropathy Type II	Acroosteolysis
Hereditary Sensory and Autonomic Neuropathy Type III	Familial dysautonomia Riley-Day syndrome
Hereditary Sensory and Autonomic Neuropathy Type IV	Congenital insensitivity to pain and anhidrosis
Hyperkalemic Periodic Paralysis Gamstorp Disease
Hyperthermia	Malignant Hyperthermia
Hypokalemic Periodic Paralysis
Iatrogenic Myopathy
Inclusion Body Myopathy
Inclusion Body Myositis
Isaac's Syndrome	Neuromyotonia
Kearns-Sayre Syndrome
Kennedy's Disease	Spinal Bulbar (Muscular) Atrophy
Kugelberg Welander Disease	Spinal Muscular Atrophy Type III
Lac St-Jean Syndrome	Progressive Polyneuropathy
Laing Distal Myopathy
Lambert-Eaton (myasthenic) syndrome
Landouzy-Dejerine Muscular Dystrophy	Facioscapulohumeral Muscular Dystrophy Type IA
Leigh's syndrome
Limb Girdle Muscular Dystrophy
Lom hereditary motor and sensory neuropathy	Charcot-Marie-Tooth Disease
Lyme Neuropathy
Macrophagic Myofascitis
Malignant Hyperthermia
Manifesting for Duchenne Muscular Dystrophy/Becker Muscular Dystrophy	Manifesting Carrier
McArdle's Disease	Myophosphorylase Deficiency Glycogen Storage Disease Type V
Minicore Myopathy
Mitochondrial myopathy and/or neuropathy	Mitochondrial neuropathy Mitochondrial DNA breakage syndrome secondary to nuclear mutation
Mixed Connective Tissue Overlap Disease
Miyoshi Myopathy
Monoclonal gammopathy with neuropathy
Mononeuritis multiplex
Multicore Myopathy
Multifocal motor neuropathy with conduction block
Muscle-Eye-Brain Disease
Muscular Dystrophy
Myasthenia Gravis
Myoadenylate Deaminase Deficiency
Myofibrillar Myopathy	Desmin Storage Myopathy
Myoglobinuria
Myophosphorylase Deficiency	McArdle's disease
Myositis	Local Nodular Myositis Focal Myositis
Myotonia Congenita	Thomsen's disease
Myotonic Muscular Dystrophy
Myotonic Muscular Dystrophy Type I	Steinert's Disease
Myotonic Muscular Dystrophy Type II	Proximal Myotonic Myopathy
Myotubular Myopathy	Centronuclear Myopathy
Neuromyotonia	Isaac's Syndrome
Nemaline Myopathy
Nonaka Myopathy
Normokaliemic Periodic Paralysis
Oculopharyngeal Muscular Dystrophy
Olivopontocerebellar Atrophy
Opthalmoplegic Muscular Dystrophy
Paramyotonia Congenita
Paraneoplastic neuropathy
Parsonage-Turner syndrome	Hereditary neuralgic amyotrophy
Periodic Paralysis
Peripheral Neuropathy and agenesis of the corpus callosum	Charlevoix-Saguenay Disease Andermann Syndrome
Peroneal Muscular Dystrophy	Charcot-Marie-Tooth Disease Type I Hereditary Motor and Sensory Neuropathies Type I
Phosphofructokinase Deficiency	Tauri's disease Glycogenosis Type VII
Polymyositis
Pompe's Disease	Acid Maltase Deficiency Glycogenosis Type II
Proximal Myotonic Myopathy	Myotonic Muscular Dystrophy Type II
Reducing Body Myopathy
Refsum's Disease	Charot-Marie-Tooth Disease Hereditary Motor and Sensory Neuropathy
Riley-Day Syndrome	Hereditary Sensory and Autonomic Neuropathy Type III
Rippling Muscle Disease
Sarcotubular Myopathy
Scapuloperoneal Muscular Atrophy
Schwartz-Jampel syndrome	Chondrodystrophic Myotonia
Spinal Bulbar (Muscular) Atrophy	Kennedy's Disease
Spinal Muscular Atrophy Type I	Werdnig-Hoffman Disease Acute Spinal Muscular Atrophy
Spinal Muscular Atrophy Type II	Intermediate Spinal Muscular Atrophy
Spinal Muscular Atrophy Type III	Kugelberg-Welander Disease Intermediate Spinal Muscular Atrophy
Spinal Muscular Atrophy Type IV
Spinal Muscular Atrophy, Distal
Spinal Muscular Atrophy, other
Spinocerebellar Ataxia of Charlevoix-Saguenay	Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Steinert's Disease	Myotonic Muscular Dystrophy Type I
Tangier's Disease	Alphalipoproteinemia
Tauri's Disease	Glycogenosis Type VII Phosphofructokinase Deficiency
Thompsen's Disease	Myotonia Congenita
Tibial Muscular Dystrophy	Udd Distal Myopathy
Tubular Aggregate Myopathy
Vacuolar Myopathies
Vasculitis-related Myopathies
Walker-Warburg Syndrome
Welander's Distal Myopathy
Werdnig-Hoffman Disease	Spinal Muscular Atrophy Type I
Zebra Body Myopathy

Download the disorder list in PDF format.

Comprehensive List of Neuromuscular Disorders Covered by Muscular Dystrophy Canada

Name of Disorder

Also Known As