Neuromuscular Diseases

Disease

Disease

Motor neuron diseases:

• Amyotrophic lateral sclerosis (ALS), or motor neuron disease

• Infantile progressive spinal muscular atrophy

• Intermediate spinal muscular atrophy

• Juvenile spinal muscular atrophy

• Adult spinal muscular atrophy

• Progressive muscular atrophy

• infectious myelitis (polio, West Nile)

Inflammatory myopathies:

• Dermatomyositis

• Polymyositis

• Inclusion body myositis

Diseases of peripheral nerve:

• Charcot-Marie tooth disease

• Dejerine-Sottas disease

• Friedreich's ataxia

Diseases of the neuromuscular junction:

• Myasthenia gravis

• Lambert-Eaton syndrome

• Botulism

Metabolic diseases of the muscle:

• Acid maltase deficiency

• Carnitine deficiency

• Carnitine palmityl transferase deficiency

• Debrancher enzyme deficiency

• Lactate dehydrogenase deficiency

• Mitochondrial myopathy

• Myoadenylate deaminase deficiency

• Phosphorylase deficiency

• Phosphofructokinase deficiency

• Phosphoglycerate kinase deficiency

Less common myopathies:

• Central core disease

• Hyperthyroid myopathy

• Myotonia congenita

• Myotubular myopathy

• Nemaline myopathy

• Paramyotonia congenita

• Periodic paralysis-hypokalemic-hyperkalemic