ArticleJournal of neurology, neurosurgery, and psychiatry1999
Different clinical aspects of debrancher deficiency myopathy.
Article in Journal of neurology, neurosurgery, and psychiatry, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 39 citations in OpenAlex.
- Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype-specific: An investigator-initiated, randomized, crossover study.Journal of inherited metabolic disease · 2021Trial
- Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.Orphanet journal of rare diseases · 2022Observational
- Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.Molecular genetics and metabolism · 2021Review
- Myopathies Related to Glycogen Metabolism Disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
- Inborn errors of energy metabolism associated with myopathies.Journal of biomedicine & biotechnology · 2010Review
- Muscle glycogenoses: an overview.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2007Review
- Differential diagnosis of idiopathic inflammatory myopathies.Current rheumatology reports · 2006Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo characterise the main clinical phenotypes of debrancher deficiency myopathy and to increase awareness for this probably underdiagnosed disorder.
methodsThe diagnosis of debrancher deficiency was established by laboratory tests, EMG, and muscle and liver biopsy.
resultsFour patients with debrancher deficiency myopathy were identified in the Tyrol, a federal state of Austria with half a million inhabitants. Clinical appearance was highly variable. The following phenotypes were differentiated: (1) adult onset distal myopathy; (2) subacute myopathy of the respiratory muscles; (3) severe generalised myopathy; and (4) minimal variant myopathy. Exercise intolerance was uncommon. The clinical course was complicated by advanced liver dysfunction in two patients and by severe cardiomyopathy in one. All had raised creatine kinase concentrations (263 to 810 U/l), myogenic and neurogenic features on EMG, and markedly decreased debrancher enzyme activities in muscle or liver biopsy specimens. The findings were substantiated by a review of 79 previously published cases with neuromuscular debrancher deficiency.
conclusionsThis study illustrates the heterogeneity of neuromuscular manifestations in debrancher deficiency. Based on the clinical appearance, age at onset, and course of disease four phenotypes may be defined which differ in prognosis, frequency of complications, and response to therapy.
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