Muscular Dystrophies

• Becker Muscular Dystrophy

• Congential Muscular Dystrophy
  (including Ullrich, Bethlem and Fukuyama, Muscle-Eye-Brain and Walker Warberg Syndrome)

• Distal Muscular Dystrophy

• Duchenne Muscular Dystrophy

• Emery-Dreifuss Muscular Dystrophy

• Facioscapulohumeral Muscular Dystrophy

• Limb-Girdle Muscular Dystrophy

• Manifesting carrier of Becker or Duchenne Muscular Dystrophy

• Myotonic Dystrophy Types 1 and 2

• Occulopharyngeal Muscular Dystrophy
  
  

Diseases of the Motor Neurons

• Spinal Muscular Atrophy (SMA) - all types including:

• Type 1 Infantile Progressive SMA/Werdnig Hoffmann Disease

• Type 2 Intermediate SMA

• Type 3 Juvenile SMA/Kugelberg-Welander syndrome

• Type 4 Adult SMA

• Spinal Bulbar Muscular Atrophy (SBMA) / Kennedy's Disease and X-linked SBMA 

• Spinal Muscular Atrophy with Respiratory Distress (SMARD1) / Distal SMA Type 1 (DSMA1) / Distal Hereditary Motor Neuropathy

Diseases of the Peripheral Nerve

• Charcot-Marie-Tooth Disease (CMT)
  (Hereditary Motor and Sensory Neuropathy)

• Dejerine-Sottas Disease (CMT Type 3)

• Hereditary Sensory Neuropathy 

Inflammatory Myopathies

• Dermatomyositis

• Juvenile Dermatomyositis

• Polymyositis

• Inclusion Body Myositis 

Diseases of the Neuromuscular Junction

• Myasthenia Gravis

• Lambert-Eaton Syndrome

• Congential Myasthenic Syndrome 

Inherited Ataxias

• CANVAS

• Friedreich Ataxia (FA)

• Spinocerebellar Ataxia (SCA) - all types

Myopathies - ALL TYPES which includes: 

• Andersen-Tawil Syndrome 
• Central Core Disease
• GNE Myopathy/Hereditary Inclusion Boby Myopathy/Distal Myopathy
  
• Hyperthyroid Myopathy
• Hypothyriod Myopathy
• Myofibrillar Myopathy
• Myotonia Congenita (Thomsen's and Becker's Disease)  
• Myotubular Myopathy
  
• Nemaline Myopathy   
• Paramyotonia Congenita
• Periodic Paralysis Types 1 and 2   
• PROMM (Proximal Myotonic Myopathy)/ Myotonic Dystrophy Type 2

Metabolic Diseases of the Muscle - ALL TYPES which includes:

• McArdle's Disease (Phosphorylase Deficiency) 

• Pompe Disease (Acid Maltase Deficiency)

• Tarui's Disease (Phosphofructokinase Deficiency)

• Cori or Forbe's Disease (Debrancher Enzyme Deficiency)

• Mitochondrial Myopathy (including MELAS, MERRF, NARP and MIDD)

• Carnitine Deficiency

• Caritine Palmityl Transferase Deficiency

• Phosphoglycerate Kinase Deficiency

• Phosphoglycerate Mutase Deficiency

• Lactate Dehydrongenase Deficiency

• Myoadenylate Deaminase Deficiency 

Hereditary Spastic Paraplegias - ALL TYPES

Also called Familial Spastic Paraparesis

Neurocutaneous Syndromes

• Central Cavernous Hemangioma

• Neurofibromatosis Type 1 and 2

• Schwannomatosis

• Tuberous Sclerosis

• Von Hippel Lindau Syndrome 

Leucodystrophies - ALL TYPES

• Adrenoleucodystrophy

• Adrenomyeloneuropathy

• Metachromatic Leucodystrophy

Last reviewed 21 APRIL 2016

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