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Neuromuscular and Neurogenetic Disorders

Neuromuscular disease affecting the nerves that control voluntary muscles are among areas of expertise provided by University of Mississippi Medical Center neurologists and the Center for Neuromuscular Disorders. Many neuromuscular disorders have a genetic link or are the result of gene mutations.

When nerve cells become unhealthy or die, communication between the nervous system and muscles breaks down, leaving muscles to weaken and deteriorate. This deterioration can lead to twitching, cramps, achiness, and joint and movement problems. Sometimes it also affects heart and lung functions.

Conditions we treat

Conditions treated at the UMMC neuromuscular clinic include diseases of the nerve, muscle, anterior horn cells, neuromuscular junction, and autonomic disorders.

Muscular dystrophy

Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. There are nine types of muscular dystrophy, each involving an eventual loss of strength, increasing disability, and possible deformity.

Each type of muscular dystrophy differs in the muscles affected, age of onset, and rate of progression. Some types are named for the affected muscles. The most well known of the muscular dystrophies is Duchenne muscular dystrophy (DMD), followed by Becker muscular dystrophy (BMD).

Other neuromuscular diseases

  • Spinal muscular atrophies
    • Amyotrophic lateral sclerosis (ALS)
    • Infantile, intermediate, juvenile, or adult spinal muscular atrophy
  • Inflammatory myopathies
    • Dermatomyositis
    • Polymyositis 
  • Diseases of peripheral nerve
    • Charcot-Marie tooth disease
    • Dejerine-Sottas disease
    • Friedreich's ataxia
  • Diseases of the neuromuscular junction
    • Myasthenia gravis
    • Lambert-Eaton syndrome
  • Metabolic diseases of the muscle
    • Acid aaltase 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