Myopathy with hypophosphatasia.
نویسندگان
چکیده
منابع مشابه
Myopathy with hypophosphatasia.
Three children with hypophosphatasia also had muscle pains, stiffness, and symptoms of proximal lower limb muscle weakness that occurred early in the disorder and were the presenting features in two. A non-progressive myopathy may be an important sign of hypophosphatasia.
متن کاملHypophosphatasia
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bo...
متن کاملAsfotase alfa therapy for children with hypophosphatasia.
Background. Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Consequently, cell-surface deficiency of TNSALP phosphohydrolase activity leads to extracellular accumulation of inorganic pyrophosphate, a natural substrate of TNSALP and inhibitor of mineralization. Children with HPP can manif...
متن کاملHypophosphatasia in the Newborn.
Rathbun (1948) first described the syndrome of hypophosphatasia as a definite entity, although previous authors had described patients now thought to be examples of this syndrome. This disorder has also been called rickets with deficiency of alkaline phosphatase (Sobel, Clark, Fox and Robinow, 1953; Schlesinger, Luder and Bodian, 1955) and osteodysmetamorphosis foetalis (Engfeldt and Zetterstro...
متن کاملTransformative therapy in hypophosphatasia
Hypophosphatasia (HPP) is a rare, potentially life-threatening disease characterised by hypomineralisation of bones and teeth. The fundamental defect is reduced functional activity of the enzyme tissue-nonspecific alkaline phosphatase (usually just termed alkaline phosphatase [ALP] in clinical practice). Homozygous or compound heterozygous mutations in the ALPL gene result in the most severe ph...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1990
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.65.1.130