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Types of Muscular Dystrophy and Neuromuscular Diseases

What are the different types of 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.

The most well known of the muscular dystrophies is Duchenne muscular dystrophy (DMD), followed by Becker muscular dystrophy (BMD).

Listed below are the nine different types of muscular dystrophy. Each type differs in the muscles affected, the age of onset, and its rate of progression. Some types are named for the affected muscles, including the following:

Age at onset
Symptoms, rate of progression, and life expectancy
Becker adolescence to early adulthood Symptoms are almost identical to Duchenne, but less severe; progresses more slowly than Duchenne; survival into middle age.
Congenital birth Symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span.
Duchenne 2 to 6 years Symptoms include general muscle weakness and wasting; affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond 20s is rare.
Distal 40 to 60 years Symptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progression is slow; rarely leads to total incapacity.
Emery-Dreifuss childhood to early teens Symptoms include weakness and wasting of shoulder, upper arm, and shin muscles; joint deformities are common; progression is slow; sudden death may occur from cardiac problems.
Facioscapulohumeral childhood to early adults Symptoms include facial muscle weakness and weakness with some wasting of shoulders and upper arms; progression is slow with periods of rapid deterioration; life span may be many decades after onset.
Limb-Girdle late childhood to middle age Symptoms include weakness and wasting, affecting shoulder girdle and pelvic girdle first; progression is slow; death is usually due to cardiopulmonary complications.
Myotonic 20 to 40 years Symptoms include weakness of all muscle groups accompanied by delayed relaxation of muscles after contraction; affects face, feet, hands, and neck first; progression is slow, sometimes spanning 50 to 60 years.
Oculopharyngeal 40 to 70 years Symptoms affect muscles of eyelids and throat causing weakening of throat muscles, which, in time, causes inability to swallow and emaciation from lack of food; progression is slow.

What are other neuromuscular diseases?

Spinal muscular atrophies:
  • Amyotrophic lateral lclerosis (ALS), or motor neuron disease
  • Infantile progressive spinal muscular atrophy
  • Intermediate spinal muscular atrophy
  • Juvenile spinal muscular atrophy
  • Adult spinal muscular atrophy

Inflammatory myopathies:

  • Dermatomyositis
  • Polymyositis

Diseases of peripheral nerve:

  • Charcot-Marie tooth disease
  • DeJerine-Sottas disease
  • Friedreich's ataxis

Diseases of the neuromuscular junction:

  • Myasthenia gravis
  • Lambert-Eaton syndrome
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

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