Name: | Description: | Size: | Format: | |
---|---|---|---|---|
114.22 KB | Adobe PDF |
Advisor(s)
Abstract(s)
RESUMO
As miopatias metabólicas são doenças
provocadas por defeitos na utilização
das reservas energéticas dos
tecidos musculares. Apresentam-se por
intolerância ao exercício, com fadiga ou
mialgias e, por vezes, com mioglobinúria.
A Doença de McArdle (doença de armazenamento
do glicogénio tipo V) é uma
doença deste grupo, com um modo de
transmissão autossómico recessivo, causada
por mutações no gene PYGM, localizado
no cromosoma 11 (11q13), que
resultam numa de ciência da fosforilase
muscular. Apresentamos o caso clínico
de um adolescente de quinze anos, em
que foi feito o diagnóstico de Doença de
McArdle após internamento por rabdomiólise
maciça no contexto de crise convulsiva
generalizada tónico-clónica. Estudos
moleculares permitiram a identificação da
mutação p.R50X em homozigotia, no probando,
no pai e numa irmã.
ABSTRACT Metabolic myopathies are disorders caused by defects of the muscle energy system. They present as exercise intolerance, with fatigue or myalgia, and sometimes with myoglobinuria. McArdle’s Disease (Glycogen Sorage Disease type V) is an autossomal recessive disease due to mutations at the PYGM gene, located on chromossome 11 (11q13), resulting in the lack of muscle glycogen phosphorylase. We present the case of a fifteen year-old boy, with McArdle’s disease, diagnosed after a massive rhabdomyolysis in the set of a generalized seizure. Molecular studies allowed the identification of p.R50X mutation, in homozygous condition, in the proband, his father and one sister.
ABSTRACT Metabolic myopathies are disorders caused by defects of the muscle energy system. They present as exercise intolerance, with fatigue or myalgia, and sometimes with myoglobinuria. McArdle’s Disease (Glycogen Sorage Disease type V) is an autossomal recessive disease due to mutations at the PYGM gene, located on chromossome 11 (11q13), resulting in the lack of muscle glycogen phosphorylase. We present the case of a fifteen year-old boy, with McArdle’s disease, diagnosed after a massive rhabdomyolysis in the set of a generalized seizure. Molecular studies allowed the identification of p.R50X mutation, in homozygous condition, in the proband, his father and one sister.
Description
Keywords
Doença de McArdle Glicogenose tipo V intolerância ao exercício rabdomiólise McArdle’s disease Type V Glycogenosis exercise intolerance rhabdomyolysis
Citation
Nascer e Crescer 2009; 18(4): 257-260