Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation

Title

Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation

Creator

van de Glind G; de Vries M; Rodenburg R; Hol F; Smeitink JA; Morava E

Publisher

European Journal Of Paediatric Neurology

Date

2007

Subject

Child; Female; Humans; Adult; Mutation; adolescent; Q3 Literature Search; DNA Mutational Analysis; Pedigree; DNA; Mitochondrial/genetics; MERRF Syndrome/complications/genetics/physiopathology; Muscular Diseases/etiology/genetics/physiopathology; Pain/etiology/genetics/physiopathology; Polymerase Chain Reaction

Description

The characteristic clinical presentation, especially the appearance of muscle symptoms, is quite unique in children carrying the mtA8344G mutation. The diagnosis of MERRF syndrome is seldom made in the pediatric age. Fatigue is a common finding in children of pubertal age. Fatigue in combination with recurrent resting muscle pain occurs frequently in the initial phase of various hereditary muscle disorders and in several autoimmune, endocrine and metabolic syndromes. In the absence of obvious biochemical/metabolic abnormalities and in the lack of neurological symptoms the complaints are frequently labelled as fibromyalgia or chronic fatigue syndrome. In patients with behavioural or psychiatric abnormalities one might even start to question the organic etiology of the complaints. We describe a family carrying the classic MTTK mutation with a variable degree of heteroplasmy, presenting in childhood as isolated recurrent muscle pain as the first symptom of the disease.
2007

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

243-246

Issue

4

Volume

11

Citation

van de Glind G; de Vries M; Rodenburg R; Hol F; Smeitink JA; Morava E, “Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation,” Pediatric Palliative Care Library, accessed September 25, 2021, https://pedpalascnetlibrary.omeka.net/items/show/14405.

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