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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