Distal Hereditary Motor Neuronopathy Type 5 (HMN5)

Distal Hereditary Motor Neuronopathy Type 5(来自ICD-11)

别称:

Young Adult-Onset Distal Hereditary Motor Neuropathy

Distal Hereditary Motor Neuropathy Type V

Distal Spinal Muscular Atrophy Type 5

Autosomal Recessive Distal Spinal Muscular Atrophy Type 5

Young Adult-Onset Dhmn

Distal Hmn V

Dhmn-V

Dsmav

Dsma5

Dhmn5

Spinal Muscular Atrophy, Distal, with Upper Limb Predominance

Distal Spinal Muscular Atrophy with Upper Limb Predominance

Neuronopathy, Distal Hereditary Motor, Type V

Distal Hereditary Motor Neuronopathy, Type V

Distal Hereditary Motor Neuropathy, Type V

Distal Hereditary Motor Neuropathy Type 5

Distal Spinal Muscular Atrophy, Type V

Spinal Muscular Atrophy, Distal Type V

Distal Spinal Muscular Atrophy Type V

Hmn V

Hmn5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Distal Hereditary Motor Neuronopathy Type 5, also known as young adult-onset distal hereditary motor neuropathy, is related to distal hereditary motor neuronopathy type 5a and neuronopathy, distal hereditary motor, autosomal dominant 5. An important gene associated with Distal Hereditary Motor Neuronopathy Type 5 is DNAJB2 (DnaJ Heat Shock Protein Family (Hsp40) Member B2), and among its related pathways/superpathways are tRNA Aminoacylation and Intracellular trafficking proteins involved in CMT neuropathy. The drugs Carbon Fiber and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, and related phenotypes are impaired vibratory sensation and distal lower limb muscle weakness

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