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Autosomal dominant proximal spinal muscular atrophy

MedGen UID:
1826099
Concept ID:
C5680856
Disease or Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Orphanet: ORPHA211037

Definition

A group of rare, genetic, motor neuron disease characterized by childhood or adult onset progressive, predominantly proximal, muscular weakness and wasting. Included diseases are Autosomal dominant adult-onset proximal spinal muscular atrophy, Lower motor neuron syndrome with late-adult onset, and Autosomal dominant childhood-onset proximal spinal muscular atrophy. [from ORDO]

Recent clinical studies

Diagnosis

Rudnik-Schöneborn S, Arning L, Epplen JT, Zerres K
Neuromuscul Disord 2012 Mar;22(3):258-62. Epub 2011 Nov 15 doi: 10.1016/j.nmd.2011.09.006. PMID: 22088787
Rudnik-Schöneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schröder R, Wehnert M, Wirth B, Zerres K
Neurogenetics 2007 Apr;8(2):137-42. Epub 2006 Nov 29 doi: 10.1007/s10048-006-0070-0. PMID: 17136397

Prognosis

Rudnik-Schöneborn S, Arning L, Epplen JT, Zerres K
Neuromuscul Disord 2012 Mar;22(3):258-62. Epub 2011 Nov 15 doi: 10.1016/j.nmd.2011.09.006. PMID: 22088787

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