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Spinal muscular atrophy, segmental

MedGen UID:
355801
•Concept ID:
C1866774
•
Disease or Syndrome
Synonym: Spinal Muscular Atrophy, Segmental
 
HPO: HP:0009037
Monarch Initiative: MONDO:0008455
OMIM®: 183020

Definition

Segmental spinal muscular atrophy is a form of anterior horn cell disease that affects predominantly the hand muscles (Kamholz et al., 1988). The disease is usually sporadic and nonprogressive. [from OMIM]

Clinical features

From HPO
Anterior horn disorder
MedGen UID:
102314
•Concept ID:
C0154681
•
Disease or Syndrome
Any anomaly of the anterior horn cell.
See: Feature record | Search on this feature
Hand muscle atrophy
MedGen UID:
116091
•Concept ID:
C0239830
•
Finding
Muscular atrophy involving the muscles of the hand.
See: Feature record | Search on this feature
Spinal muscular atrophy, segmental
MedGen UID:
355801
•Concept ID:
C1866774
•
Disease or Syndrome
Segmental spinal muscular atrophy is a form of anterior horn cell disease that affects predominantly the hand muscles (Kamholz et al., 1988). The disease is usually sporadic and nonprogressive.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinal muscular atrophy, segmental

Conditions with this feature

Spinal muscular atrophy, segmental
MedGen UID:
355801
•Concept ID:
C1866774
•
Disease or Syndrome
Segmental spinal muscular atrophy is a form of anterior horn cell disease that affects predominantly the hand muscles (Kamholz et al., 1988). The disease is usually sporadic and nonprogressive.
See: Condition Record
Spinal muscular atrophy, segmental

Recent clinical studies

Diagnosis

Congenital segmental spinal muscular atrophy: a case report.
Savaş T, Erol I, Özkale Y, Saygi S
J Child Neurol 2015 Mar;30(4):509-12. Epub 2014 Oct 9 doi: 10.1177/0883073814550497. PMID: 25300987
Hirayama disease: Is surgery an option?
Agundez M, Rouco I, Barcena J, Mateos B, Barredo J, Zarranz JJ
Neurologia 2015 Oct;30(8):502-9. Epub 2013 Aug 20 doi: 10.1016/j.nrl.2013.05.005. PMID: 23969297

Prognosis

Hirayama disease: Is surgery an option?
Agundez M, Rouco I, Barcena J, Mateos B, Barredo J, Zarranz JJ
Neurologia 2015 Oct;30(8):502-9. Epub 2013 Aug 20 doi: 10.1016/j.nrl.2013.05.005. PMID: 23969297

Clinical prediction guides

Hirayama disease: Is surgery an option?
Agundez M, Rouco I, Barcena J, Mateos B, Barredo J, Zarranz JJ
Neurologia 2015 Oct;30(8):502-9. Epub 2013 Aug 20 doi: 10.1016/j.nrl.2013.05.005. PMID: 23969297

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    • OMIM
      Related records in OMIM
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