autosomal recessive distal hereditary motor neuronopathy 1

Term ID

DOID:0111064

Synonyms

• autosomal recessive distal spinal muscular atrophy 1
• autosomal recessive spinal muscular atrophy with respiratory distress
• dHMN6
• diaphragmatic spinal muscular atrophy
• distal hereditary motor neuropathy type 6
• distal spinal muscular atrophy 1
• distal-HMN type 6
• DSMA1
• severe infantile axonal neuropathy with respiratory failure type 1
• SIANRF
• SMARD1
• spinal muscular atrophy with respiratory distress type 1

Definition

A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (2)

References

• ICD10CM:G12.2
• MIM:604320
• ORDO:98920

Ontology

Human Disease   ( DOID:0111064 )