Hereditary Motor And Sensory Neuropathy V


Hereditary motor and sensory neuropathies (HMSN) are a heterogeneous group of peripheral nervous system disorders affecting motor and sensory function. HMSN I, also known as Charcot-Marie-Tooth (CMT) disease, or peroneal muscular atrophy, type 1, is a demyelinating neuropathy (see CMT1B; {118200}) and HMSN II, also known as CMT type 2, is an axonal neuropathy (see CMT2A1; {118210}). See also HMSN III (OMIM ) and HMSN IV (OMIM ).For an autosomal recessive disorder with similarities to HMSN V, see {607731}.

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Motor And Sensory Neuropathy V

  • Pain
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Hypertonia
  • Babinski sign
  • Pes cavus
  • Difficulty walking
  • Distal muscle weakness

And another 23 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hereditary Motor And Sensory Neuropathy V Is also known as cmt with pyramidal features, hmsn v, charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant, hmsn5, peroneal muscular atrophy with pyramidal features, autosomal dominant, charcot-marie-tooth disease with pyramidal features, autosomal domina.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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