Spondyloarthropathy associated with glycogen storage disease type V mimicking polymyositis
نویسندگان
چکیده
منابع مشابه
Type V glycogen storage disease.
We describe three children with type V glycogen storage disease, who were reluctant to climb hills. We suggest that this condition, usually described as being of adult onset, can often be diagnosed in childhood.
متن کاملGlycogen storage disease (type-III).
Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of ...
متن کاملGlycogen storage disease type IV, amylopectinosis.
Classification of the glycogen storage diseases according to the underlying enzyme defect has added considerably to our understanding of this group of diseases. Of the 6 types in which the biochemical abnormality has been characterized, the least common appears to be type IV, amylopectin-osis. The first case was described by Andersen in 1952, and the glycogen present in the liver and other orga...
متن کاملRecurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V
Dear Editor, Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis and is caused by alterations in the PYGM gene.1 Patients with GSD-V typically present with exercise intolerance, episodic rhabdomyolysis, and the second-wind phenomenon. Seizure has been well described as a provocative event for rhabdomyolysis, but it is not classical feature of GSD-V. Here w...
متن کاملPsychosocial functioning in youth with glycogen storage disease type I.
OBJECTIVE To assess the quality of life and psychosocial functioning among pediatric patients with Glycogen Storage Disease (GSD) types Ia and Ib. METHODS Thirty-one youth with GSD types Ia and Ib and 42 healthy controls participated. Quality of life ratings from the GSD types Ia and Ib sample were compared with a previously reported clinical comparison sample. Children completed measures of ...
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ژورنال
عنوان ژورنال: QJM: An International Journal of Medicine
سال: 2019
ISSN: 1460-2725,1460-2393
DOI: 10.1093/qjmed/hcy309