Familial Asymmetric Distal Upper Limb Amyotrophy (Hirayama Disease) Report of a Greek Family

Andreadou, E; Christodoulou, K; Manta, P; Karandreas, N; Loukaidis, P; Sfagos, C; Vassilopoulos, D

dc.contributor.author	Andreadou, E	en
dc.contributor.author	Christodoulou, K	en
dc.contributor.author	Manta, P	en
dc.contributor.author	Karandreas, N	en
dc.contributor.author	Loukaidis, P	en
dc.contributor.author	Sfagos, C	en
dc.contributor.author	Vassilopoulos, D	en
dc.date.accessioned	2014-03-01T01:58:53Z
dc.date.available	2014-03-01T01:58:53Z
dc.date.issued	2009	en
dc.identifier.issn	1074-7931	en
dc.identifier.uri	https://dspace.lib.ntua.gr/xmlui/handle/123456789/28770
dc.subject	distal upper limb amyotrophy	en
dc.subject	Hirayama disease	en
dc.subject	distal spinal muscular atrophy type V (dSMA-V)	en
dc.subject	familial occurrence	en
dc.subject	upper limbs	en
dc.subject.classification	Clinical Neurology	en
dc.subject.other	SPINAL MUSCULAR-ATROPHY	en
dc.subject.other	HEREDITARY MOTOR NEUROPATHIES	en
dc.subject.other	UPPER EXTREMITY	en
dc.subject.other	CERVICAL MYELOPATHY	en
dc.subject.other	NEURON GENE	en
dc.subject.other	MUTATIONS	en
dc.subject.other	PHENOTYPE	en
dc.subject.other	GENOTYPE	en
dc.title	Familial Asymmetric Distal Upper Limb Amyotrophy (Hirayama Disease) Report of a Greek Family	en
heal.type	journalArticle	en
heal.language	English	en
heal.publicationDate	2009	en
heal.abstract	Introduction: Hirayama disease is a rare nonprogressive, predominantly unilateral, juvenile distal upper limb amyotrophy that involves C7, C8, and T(h)1 innervated muscles. The etiology and pathogenesis of this focal amyotrophy is presently unknown. There is a debate as to whether Hirayama disease is an unusual neck flexion induced cervical myelopathy or an intrinsic motor neuron disease. Despite being a sporadic disorder, familial forms have been occasionally described, with either autosomal recessive or dominant inheritance. Case Series: We describe a 3-generation Greek family, with 4 members affected by a benign distal upper limb amyotrophy of long duration, reminiscent of Hirayama disease, suggesting an autosomal dominant inheritance pattern. Hypothesizing that this familial amyotrophy might be related to autosomal dominant distal spinal muscular atrophy type V(dSMA-V) that is characterized by prominent involvement of the distal upper extremities, we tested the index case for glycyl tRNA synthetase and Berardinelli-Seip congenital lipodystrophy (BSCL2) N88S and S90L gene mutations (by direct sequencing) that are involved in the development of dSMA-V phenotype. Despite the phenotypical similarity of this familial amyotrophy to dSMA-V, no missense mutation in the genes presently associated with it was detected. Conclusion: The reported family is the first in the literature with occurrence of Hirayama amyotrophy in 3 generations of a family. Considering that familial forms of Hirayama amyotrophy are uncommon, it could be assumed that they might represent a different subtype of the same disease having the same clinical features but different pathogenesis.	en
heal.publisher	LIPPINCOTT WILLIAMS & WILKINS	en
heal.journalName	NEUROLOGIST	en
dc.identifier.isi	ISI:000266029600009	en
dc.identifier.volume	15	en
dc.identifier.issue	3	en
dc.identifier.spage	156	en
dc.identifier.epage	160	en