Neuromuscular & Neurogenetic Disorders

Neuromuscular & Neurogenetic Diseases


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

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

Conditions treated at the UMMC neuromuscular clinic include, but are not limited, to diseases of the nerve, muscle, anterior horn cells, neuromuscular junction and autonomic disorders.

Muscular dystrophy

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

There are nine different types of muscular dystrophy, and each type 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 syndrom
  • 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