The phenotypic and genotypic features of a Scottish cohort with McArdle disease
| Autor: | Ana Töpf, Kathryn M. Brennan, Willie Stewart, Kevin Kinch, Rosaline Quinlivan, Cheryl Longman, Volker Straub, Sacha E. Gandhi, Richard E. Petty, Maria Elena Farrugia |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male 0301 basic medicine Pediatrics medicine.medical_specialty Genotype Exercise intolerance Rhabdomyolysis Cohort Studies Coronary artery disease 03 medical and health sciences 0302 clinical medicine medicine Humans Muscle Skeletal Genetics (clinical) Aged Retrospective Studies Muscle Weakness business.industry Homozygote Myoglobinuria Muscle weakness Retrospective cohort study Middle Aged medicine.disease Comorbidity Phenotype 030104 developmental biology Scotland Neurology Mutation Pediatrics Perinatology and Child Health Cohort Glycogen Storage Disease Type V Female Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscular Disorders. 31:695-700 |
| ISSN: | 0960-8966 |
| Popis: | This retrospective study evaluated the phenotypic and genotypic features of 14 patients with McArdle disease attending the West of Scotland adult muscle clinic. Although all patients experienced exercise-induced cramps, exercise intolerance and hyperCKaemia, only 71% (n = 10) experienced the second wind phenomenon, rhabdomyolysis and/or myoglobinuria. We observed a high rate of fixed muscle weakness (50%; n = 7), coronary artery disease (36%; n = 5), and psychological comorbidity (50%; n = 7). Although 79% had symptom onset in the first decade of life, the mean age at presentation and at genetic diagnosis was 43.8 years and 47.7 years, respectively. 93% had at least one copy of the common PYGM pathogenic variant, c.148C > T, p.(Arg50*), with 50% (n = 7) of the cohort being homozygous. Our cohort highlights the phenotypic variability seen in McArdle disease and underscores the potential for late-onset presentations. It emphasises the need for improved awareness and recognition of this condition amongst neurologists, rheumatologists and general physicians. A history of exercise intolerance and second wind phenomenon may not always be volunteered by the patient, underscoring the need to ask specific questions in clinic to extrapolate the relevant symptoms in this patient cohort. |
| Databáze: | OpenAIRE |
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