Hereditary Motor and Sensory Neuropathy V (HMSN5)

Alias:

Hmsn V

Charcot-Marie-Tooth Disease-Pyramidal Features Syndrome

Hereditary Motor and Sensory Neuropathy Type 5

Hereditary Motor and Sensory Neuropathy Type V

Hmsn 5

Charcot-Marie-Tooth Neuropathy with Pyramidal Features, Autosomal Dominant

Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant

Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant

Charcot-Marie-Tooth Disease Type 5

Spastic Paraplegia, Hereditary

Cmt with Pyramidal Features

Hmsn5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hereditary Motor and Sensory Neuropathy V, also known as hmsn v, is related to charcot-marie-tooth disease type 5 and charcot-marie-tooth disease, x-linked recessive, 5, and has symptoms including leg cramps and pain in lower limb. An important gene associated with Hereditary Motor and Sensory Neuropathy V is MFN2 (Mitofusin 2). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, and related phenotypes are spasticity and distal muscle weakness

Related ID：

MALACARDS：HRD138

OMIM：600361