Distal hereditary motor neuropathy type V

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Charcot-marie-tooth foot


Distal hereditary motor neuropathy type V (dHMN V) is a rare genetic disorder that primarily affects the motor neurons in the peripheral nervous system. This condition is characterized by progressive muscle weakness and atrophy, particularly in the distal parts of the limbs, such as the hands and feet.

Clinical Features[edit | edit source]

Individuals with dHMN V typically present with symptoms in late childhood or early adulthood. The primary clinical features include:

  • Progressive muscle weakness and atrophy in the hands and feet
  • Difficulty with fine motor skills, such as buttoning clothes or writing
  • Foot deformities, such as pes cavus (high-arched feet)
  • Mild to moderate sensory loss in the affected areas

Genetics[edit | edit source]

dHMN V is inherited in an autosomal dominant manner. Mutations in the BSCL2 gene have been identified as a cause of this condition. The BSCL2 gene provides instructions for making a protein called seipin, which is involved in the development and maintenance of motor neurons.

Diagnosis[edit | edit source]

The diagnosis of dHMN V is based on clinical evaluation, family history, and genetic testing. Electromyography (EMG) and nerve conduction studies (NCS) are often used to assess the function of the peripheral nerves and muscles.

Differential Diagnosis[edit | edit source]

dHMN V should be differentiated from other types of hereditary motor neuropathies, such as:

Management[edit | edit source]

There is currently no cure for dHMN V. Management focuses on symptomatic treatment and supportive care, including:

  • Physical therapy to maintain muscle strength and flexibility
  • Occupational therapy to assist with daily activities
  • Orthopedic interventions for foot deformities
  • Pain management, if necessary

Prognosis[edit | edit source]

The progression of dHMN V is typically slow, and life expectancy is generally not affected. However, the degree of disability can vary widely among affected individuals.

See Also[edit | edit source]

References[edit | edit source]

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Contributors: Prab R. Tumpati, MD