Details of Disease

General Information of Disease (ID: DISYKBMQ)

• Disease Name: Neuronopathy, distal hereditary motor, autosomal dominant 8
• Synonyms: HMN8; neuropathy, distal hereditary motor, type 8; spinal muscular atrophy, distal, congenital nonprogressive; spinal muscular atrophy, congenital benign, with contractures; neuronopathy, distal hereditary motor, type 8; neuronopathy, distal hereditary motor, type VIII; autosomal dominant benign distal spinal muscular atrophy; congenital benign spinal muscular atrophy with contractures; congenital nonprogressive spinal muscular atrophy; autosomal dominant congenital benign spinal muscular atrophy
• Definition: Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.
• Disease Hierarchy:
  DIS4M3WN: Neuronopathy, distal hereditary motor, autosomal dominant
  DISYKBMQ: Neuronopathy, distal hereditary motor, autosomal dominant 8
• Disease Identifiers:
  MONDO ID: MONDO_0010839
  MESH ID: C563981
  UMLS CUI: C1838492
  OMIM ID: 600175
  MedGen ID: 373984
  Orphanet ID: 1216
  SNOMED CT ID: 763067000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRPV4	TTKP2SU	Limited	Genetic Variation	[1]
TRPV4	TTKP2SU	Supportive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPV4	OTPZKQLX	Supportive	Autosomal dominant	[2]

References

• [1] TRPV4 mutations in children with congenital distal spinal muscular atrophy.Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25.
• [2] Autosomal Dominant TRPV4 Disorders. 2014 May 15 [updated 2020 Sep 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.