Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An infant with hypotonia, gross cardiomegaly and heart failure is described. Angiocardiography revealed a hypertrophic restrictive cardiomyopathy. The diagnosis of type II glycogenosis was confirmed by the total absence of alpha-1,4-glucosidase in cultured skin fibroblasts. It is now possible to offer prenatal diagnosis by amniocentesis to women at risk of having affected children.
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PMID:Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report. 677 81

A case of a 40-year-old female is reported. Her symptoms started with abdominal complaints, loss of weight, general weakness, then gradually polyneuropathy, worsening hypotonia and systolic heart murmur developed. The bone marrow showed 20-25% infiltration by myeloma. An IgG lambda type paraproteinaemia was diagnosed using immunelectrophoresis. The ejection systolic murmur was caused by restrictive cardiomyopathy--characteristic of primary amyloidosis--with obstruction of the outflow tract of the left ventricle. Echocardiographic changes took 11 months to develop. The patient's status became dominated by severe hypotonia and she died as a result of heart failure. The post mortem examination confirmed amyloidosis with myeloma. Histopathological examination of the myocardium, coronary and other arteries revealed severe changes with AL-type amyloid deposits. The case demonstrates that amyloidosis can lead not only to restrictive cardiomyopathy but obstruction of the outflow tract of the left ventricle.
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PMID:[Obstructive cardiomyopathy, caused by amyloidosis, associated with bone marrow myeloma]. 849 32