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Segmental spinal muscular atrophy

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
Abnormal anterior horn cell morphology
MedGen UID:
102314
Concept ID:
C0154681
Disease or Syndrome
Any anomaly of the anterior horn cell.
Hand muscle atrophy
MedGen UID:
116091
Concept ID:
C0239830
Finding
Muscular atrophy involving the muscles of the hand.
Segmental spinal muscular atrophy
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.

Term Hierarchy

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

Conditions with this feature

Segmental spinal muscular atrophy
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.

Professional guidelines

PubMed

Šapina M, Olujic B, Nađ T, Vinkovic H, Dupan ZK, Bartulovic I, Milas K, Kos M, Divkovic D, Zubčić Ž, Erić I
Pediatr Pulmonol 2024 Mar;59(3):625-631. Epub 2023 Nov 29 doi: 10.1002/ppul.26792. PMID: 38018688
Kamal Z, Rouhi G
Med Eng Phys 2019 Nov;73:51-63. Epub 2019 Aug 1 doi: 10.1016/j.medengphy.2019.07.008. PMID: 31378640
Bell DF, Moseley CF, Koreska J
Spine (Phila Pa 1976) 1989 Dec;14(12):1301-7. doi: 10.1097/00007632-198912000-00006. PMID: 2617359

Recent clinical studies

Etiology

Oudeman J, Eftimov F, Strijkers GJ, Schneiders JJ, Roosendaal SD, Engbersen MP, Froeling M, Goedee HS, van Doorn PA, Caan MWA, van Schaik IN, Maas M, Nederveen AJ, de Visser M, Verhamme C
Neurology 2020 Jan 7;94(1):e62-e74. Epub 2019 Dec 11 doi: 10.1212/WNL.0000000000008697. PMID: 31827006
Sinaki M, Wood MB, Mulder DW
Mayo Clin Proc 1984 May;59(5):338-42. doi: 10.1016/s0025-6196(12)61430-x. PMID: 6727426

Diagnosis

Oudeman J, Eftimov F, Strijkers GJ, Schneiders JJ, Roosendaal SD, Engbersen MP, Froeling M, Goedee HS, van Doorn PA, Caan MWA, van Schaik IN, Maas M, Nederveen AJ, de Visser M, Verhamme C
Neurology 2020 Jan 7;94(1):e62-e74. Epub 2019 Dec 11 doi: 10.1212/WNL.0000000000008697. PMID: 31827006
Kieser DC, Cox PJ, Kieser SCJ
Eur Spine J 2018 Jun;27(6):1201-1206. Epub 2018 Mar 14 doi: 10.1007/s00586-018-5545-9. PMID: 29541850
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
Veldink JH, Van den Berg LH, Wokke JH
J Neurol 2004 Apr;251(4):491-500. doi: 10.1007/s00415-004-0322-6. PMID: 15083302
Pradhan S, Gupta RK
J Neurol Sci 1997 Mar 10;146(2):133-8. doi: 10.1016/s0022-510x(96)00296-1. PMID: 9077509

Prognosis

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
Liu GT, Specht LA
Pediatr Neurol 1993 Jan-Feb;9(1):54-6. doi: 10.1016/0887-8994(93)90011-z. PMID: 8452601
Sinaki M, Wood MB, Mulder DW
Mayo Clin Proc 1984 May;59(5):338-42. doi: 10.1016/s0025-6196(12)61430-x. PMID: 6727426

Clinical prediction guides

Oudeman J, Eftimov F, Strijkers GJ, Schneiders JJ, Roosendaal SD, Engbersen MP, Froeling M, Goedee HS, van Doorn PA, Caan MWA, van Schaik IN, Maas M, Nederveen AJ, de Visser M, Verhamme C
Neurology 2020 Jan 7;94(1):e62-e74. Epub 2019 Dec 11 doi: 10.1212/WNL.0000000000008697. PMID: 31827006
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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