Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a family in which two adult sibs presented with a history of congenital nonprogressive myopathy, severe mental retardation and evidence of mild generalized weakness, short stature, musculoskeletal deformities, facial anomalies, sexual infantilism, and radiologic evidence of pituitary hypoplasia. The parents were first cousins. An excess of other, apparently unrelated, genetic conditions were present in other family members. Results of histochemical and electron microscopy studies of muscle biopsies from both affected individuals were compatible with multicore disease. This newly described syndrome likely is an autosomal recessive trait and appears to be the first reported association of multicore disease with mental retardation.
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PMID:Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism. 397 66

Multicore myopathy, classified with the benign congenital myopathies, is manifest clinically as proximal muscle weakness, hypotonia, and delayed motor development. We report an unusual case of multicore myopathy with an expanded clinical syndrome involving the central nervous system, as well as additional congenital malformations. Clinical manifestations included microcephaly, mental retardation, spasticity with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.
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PMID:Multicore myopathy, microcephaly, aganglionosis, and short stature. 793 Apr 5

To determine the development and prognosis of patients with the moderate congenital form of congenital non-progressive myopathies (CNM), we investigated 55 patients with CNM by questionnaires. This patient group included 18 with nemaline myopathy, 11 with central core disease, 3 with myotubular myopathy, 15 with congenital fiber type disproportion and 3 with minicore disease. As to motor development, almost all patients had learned to walk alone by 3 years of age, averaging 2 2/12 years. Central nervous system involvement including mental retardation was seen in 24% of the patients, predominantly in patients with myopathy. The level of mental retardation was not related to the severity of muscle weakness. Patients with central core disease had a higher frequency of skeletal deformities. CNM were not necessarily benign in their prognosis as previously thought, but sometimes showed progressive deterioration leading to death. In 16% of patients, progressive deterioration in muscle strength and respiratory function became manifest after once the patient became ambulant. Even in the benign congenital form, seven of 55 patients died from respiratory or cardiac failures by 20 years of age. Therefore evaluation of cardiopulmonary function at regular intervals is important in the continuing care of patients with CNM.
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PMID:A follow-up study of congenital non-progressive myopathies. 889 Dec 37