Distal Spinal Muscular Atrophy 1 (HMN6)

Alias:

Spinal Muscular Atrophy with Respiratory Distress Type 1

Autosomal Recessive Distal Spinal Muscular Atrophy 1

Diaphragmatic Spinal Muscular Atrophy

Smard1

Sianrf

Dsma1

Dhmn6

Autosomal Recessive Spinal Muscular Atrophy with Respiratory Distress

Severe Infantile Axonal Neuropathy with Respiratory Failure Type 1

Distal Hereditary Motor Neuropathy Type 6

Distal-Hmn Type 6

Autosomal Recessive Distal Spinal Muscular Atrophy Type 1

Distal Spinal Muscular Atrophy Type 1

Severe Infantile Axonal Neuropathy with Respiratory Failure

Spinal Muscular Atrophy with Respiratory Distress

Distal Hereditary Motor Neuronopathy Type Vi

Hmnvi

Hmn6

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Distal Spinal Muscular Atrophy 1, also known as spinal muscular atrophy with respiratory distress type 1, is related to neuronopathy, distal hereditary motor, autosomal recessive 1 and spinal muscular atrophy, type i, and has symptoms including constipation and inspiratory stridor. An important gene associated with Distal Spinal Muscular Atrophy 1 is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2), and among its related pathways/superpathways is 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 skeletal muscle.

Related ID：

MALACARDS：DST139