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bn:01617536n
Noun Concept
Categories: Autosomal recessive disorders, Neurogenetic disorders, Motor neurone disease
EN
autosomal recessive distal spinal muscular atrophy 1  distal spinal muscular atrophy type 1  autosomal recessive distal spinal muscular atrophy type 1  autosomal recessive spinal muscular atrophy with respiratory distress  DHMN6
EN
Distal spinal muscular atrophy type 1, also known as spinal muscular atrophy with respiratory distress type 1, is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles. Wikipedia
Definitions
Relations
Sources
EN
Distal spinal muscular atrophy type 1, also known as spinal muscular atrophy with respiratory distress type 1, is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles. Wikipedia
Human disease Wikidata
IS A
rare disease
Werdnig-Hoffman disease
Distal hereditary motor neuronopathies
autosomal recessive disease
GENETIC ASSOCIATION
IGHMBP2
HEALTH SPECIALTY
neurology
Wikipedia
EN
distal spinal muscular atrophy type 1
Wikidata
EN
autosomal recessive distal spinal muscular atrophy 1
Wikipedia Redirections
EN
Autosomal recessive distal spinal muscular atrophy 1, DSMA1, SIANRF, SMARD, SMARD1, spinal muscular atrophy with respiratory distress type 1
Wikidata Alias
EN
autosomal recessive distal spinal muscular atrophy 1, autosomal recessive distal spinal muscular atrophy type 1, autosomal recessive spinal muscular atrophy with respiratory distress, DHMN6, diaphragmatic spinal muscular atrophy, distal-HMN type 6, Distal hereditary motor neuronopathy type 6, distal hereditary motor neuropathy type 6, distal spinal muscular atrophy 1, DSMA1, Hmn6, Hmn 6, Neuronopathy, Distal Hereditary Motor, Type 6, Neuronopathy, Severe Infantile Axonal, With Respiratory Failure, Severe infantile axonal neuronopathy with respiratory failure, Severe Infantile Axonal Neuropathy With Respiratory Failure, severe infantile axonal neuropathy with respiratory failure type 1, SIANRF, SMARD1, Spinal Muscular Atrophy, Diaphragmatic, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1, Spinal Muscular Atrophy, Distal, Autosomal Recessive, type 1, Spinal Muscular Atrophy With Respiratory Distress 1, Spinal muscular atrophy with respiratory distress type 1

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