Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 (HMND8)

Alias:

Autosomal Dominant Congenital Benign Spinal Muscular Atrophy

Congenital Benign Spinal Muscular Atrophy with Contractures

Autosomal Dominant Benign Distal Spinal Muscular Atrophy

Congenital Nonprogressive Spinal Muscular Atrophy

Dhmn8

Hmn8

Neuronopathy, Distal Hereditary Motor, Type Viii

Neuropathy, Distal Hereditary Motor, Type Viii

Distal Hereditary Motor Neuronopathy Type 8

Spinal Muscular Atrophy, Congenital Benign, with Contractures

Spinal Muscular Atrophy Congenital Benign with Contractures

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Distal Spinal Muscular Atrophy, Congenital Non-Progressive

Distal Hereditary Motor Neuropathy Type Viii

Neuronopathy, Distal Hereditary Motor, 8

Hmnd8

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8, also known as autosomal dominant congenital benign spinal muscular atrophy, is related to progressive muscular atrophy and fungal meningitis. An important gene associated with Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Related phenotypes are hypotonia and joint stiffness

Related ID：

MALACARDS：NRN059

OMIM：600175

MESH：D009134