Hereditary Neuropathies

Hereditary (passed from parents) neuropathies are a group of inherited disorders of the peripheral nervous system. Within the group there are 4 subcategories of disorders. They include:

  • Hereditary motor (movement) and sensory neuropathy.

  • Hereditary sensory neuropathy.

  • Hereditary motor neuropathy.

  • Hereditary sensory and autonomic neuropathy.

Charcot-Marie-Tooth disorder accounts for the majority of all hereditary neuropathies.

SYMPTOMS

Problems (symptoms) of these disorders vary. They may include:

  • Numbness and tingling in the feet and hands.

  • Muscle weakness (especially in the distal muscles).

  • Curvature of the spine (scoliosis).

  • Thin lower legs.

  • Foot deformities.

  • Insensitivity to pain.

  • Autonomic symptoms. These include:

  • Impaired sweating.

  • Postural hypotension (drop in blood pressure with position changes, primarily from sitting to standing).

  • Skin blotching.

DIAGNOSIS

Testing to help with learning what is wrong (diagnosis) includes:

  • Nerve conduction studies.

  • Nerve biopsies. These are tissue samples.

  • Genetic testing.

These disorders may be diagnosed as early as birth. Or they may not be diagnosed until middle or late age.

TREATMENT

There is no standard course of treatment for these disorders. Treatment is symptomatic and supportive. It may include:

  • Orthopedic surgery and bracing. These are to improve mobility.

  • Measures to protect against stress fractures. These are breaks in a bone. This is particularly in the feet and legs.

Genetic counseling is available.

The likely outcome (prognosis) for individuals with these disorders depends upon the type of neuropathy. Some types progress more slowly than others.