Charcot-Marie-Tooth Hereditary Neuropathy (DHMN)

Alias:

Distal Spinal Muscular Atrophy

Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy

Distal Hereditary Motor Neuropathy

Cmt/hmsn

Dhmn

Neuropathy, Motor, Distal, Hereditary

Distal Hereditary Motor Neuropathies

Hereditary Motor/sensory Neuropathy

Spinal Muscular Atrophy Distal

Charcot-Marie-Tooth Disease

Hmsn

Dsma

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Hereditary Neuropathy, also known as distal spinal muscular atrophy, is related to distal hereditary motor neuronopathy type 5 and autosomal recessive distal hereditary motor neuronopathy, and has symptoms including back pain, headache and pain. An important gene associated with Charcot-Marie-Tooth Hereditary Neuropathy is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2), and among its related pathways/superpathways is tRNA Aminoacylation. The drugs Folic acid and Lipoic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and muscle

Related ID：

MALACARDS：CHR453