MT-ND5 gene mutation-associated mitochondrial complex I cytopathy in Leigh syndrome presenting as writer’s cramp: A case report

Autor:	Vikash Agarwal, Dolly Mushahary, Anil Venkitachalam, Sachin Suresh Babu, Dinesh Nayak
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	focal dystonia leigh syndrome mitochondrial cytopathy mt-nd5 gene writer’s cramp Neurology. Diseases of the nervous system RC346-429
Zdroj:	Annals of Movement Disorders, Vol 4, Iss 2, Pp 92-95 (2021)
Druh dokumentu:	article
ISSN:	2590-3446 2590-3454
DOI:	10.4103/AOMD.AOMD_38_20
Popis:	Leigh syndrome is a classical mitochondrial cytopathy with multisystemic presentation that can lead to death in the first few years of life; however, cases in adults have also been reported. In this study, we report the case of an adolescent female presenting with writer’s cramp associated with the MT-ND5 gene mutation, diagnosed after observation of brain abnormalities on magnetic resonance imaging (MRI) and biochemical changes suggestive of mitochondrial cytopathy. The patient responded to botulinum toxin injection. To the best of our knowledge, ours is the first case report on focal dystonic presentation associated with the MT-ND5 gene mutation (with unclear pathogenicity) as a mild form of Leigh syndrome in adolescents.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/6021d7fb63d54f9299d789ed502526cc Zobrazit plný text záznamu View record in DOAJ