Distal hereditary motor neuropathy type V

Add links
Source: Wikipedia, the free encyclopedia.
Distal hereditary motor neuropathy type V
Other namesdHMN V

Distal hereditary motor neuropathy type V is a particular type of neuropathic disorder. In general,

Charcot-Marie-Tooth disease (CMT)", because the diseases are closely related in symptoms and genetic cause. The diagnostic difference in these diseases is the presence of sensory loss in the extremities.[2] There are seven classifications of dHMNs, each defined by patterns of inheritance, age of onset, severity, and muscle groups involved. Type V (sometimes notated as Type 5) is a disorder characterized by autosomal dominance, weakness of the upper limbs that is progressive and symmetrical, and atrophy of the small muscles of the hands.[3]

Signs and symptoms

Onset usually occurs within the first two decades of life, commonly in the teenage years or the twenties. Life expectancy is normal.

High arch of the foot (pes cavus) seen in dHMN V and other related motor neuropathy disorders

High arch of the foot (pes cavus) is common. Patients also have trouble controlling their hands, due to muscle loss on the thumb side of the index finger and palm below the thumb.[4] It is rare for a person with this disorder to lose the ability to walk, though changes in gait may occur later in life.[5]

Frequency of this disorder is unknown.[6]

Genetics

dHMN V has a pattern of

allelic (i.e., caused by mutations on the same gene) with Charcot–Marie–Tooth disease and with Silver’s Syndrome, a disorder also characterized by small muscle atrophy in the hands.[1][7]
Another rare form of dHMN V is associated with a splicing mutation in REEP-1, a gene often associated with hereditary spastic neuroplegia.[8]

Diagnosis

In an individual with dHMN V,

pure motor neuropathy, patterns of weakness without upper motor neuron damage, in the hands. Tendon reflexes will also appear normal.[9] Clinical, electrophysiological, and pathological testing will show a lack of damage to sensory neurons, differentiating this disease from CMT.[10]

Treatment

Physical therapy is the predominant treatment of symptoms. Orthopedic shoes and foot surgery can be used to manage foot problems.[5]

References

  1. ^
    S2CID 73528377
    .
  2. S2CID 27780275
    .
  3. ^
    S2CID 21874798
    .
  4. ^ "Distal hereditary motor neuropathy, type V". Think Genetic. 10 June 2016. Archived from the original on 13 March 2017. Retrieved 5 November 2016.
  5. ^
    S2CID 43661842
    .
  6. ^ Reference, Genetics Home. "distal hereditary motor neuropathy, type V". Genetics Home Reference.
  7. S2CID 22868888
    .
  8. PMID 22703882
    .
  9. PMID 12690580
    .
  10. S2CID 665324
    .

External links

Retrieved from "https://en.wikipedia.org/w/index.php?title=Distal_hereditary_motor_neuropathy_type_V&oldid=1203053611"