Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Further observations on a family with facioscapulohumeral (FSH) muscular dystrophy due to mitochondrial myopathy, and on a case with lipid storage myopathy are reported. One member of the family with FSH muscular dystrophy died due to a viral pneumonia, during which she developed gross hyperlacticacidaemia and acidosis. Autopsy examination showed that the mitochondrial morphological abnormality was restricted to the skeletal muscle. Two other members of the family, who also had mitochondrial myopathy, have developed a cerebellar syndrome. The skeletal muscle carnitine level in the propositus of this family was normal. A woman with lipid storage myopathy has been shown to have skeletal muscle carnitine deficiency, the plasma carnitine level being only slightly lower than normal.
 ...
PMID:Further studies of mitochondrial and lipid storage myopathies. 63 30

Cerebellar hypoplasia may, at neuroimaging studies, be found in association with congenital muscular dystrophy (CMD), although it is an extremely rare occurrence. We here report on three CMD patients who underwent a longitudinal evaluation of clinical and neuroimaging features for a mean period of 18 years. Case 1, a 22-year-old woman, and cases 2 and 3, brothers aged 26 and 20 years, respectively, had presented a mild to moderate muscular weakness and increased serum creatine kinase (CK) levels since birth. All cases were diagnosed in the first years of life, with identification of evident dystrophic changes at muscle biopsy and moderate to severe cerebellar hypoplasia at brain computed tomography (CT) scan. Subsequently, all the patients underwent a second muscle biopsy, with immunostaining and immunoblot analysis, which showed normal values for merosin, dystrophin and dystrophin-related proteins. During the longitudinal study, the patients underwent repeated neurological and psychiatric examinations, serum CK controls, intellectual ability assessments and neuroimaging evaluations (CT and/or magnetic resonance imaging (MRI)). In all cases, these investigations indicated a mild to moderate deficit in the proximal muscles and a clear-cut cerebellar syndrome which, it was assumed, had been present since the first years. The patients also presented some intellectual difficulties, with an IQ of 0.69 in case 1, 0.83 in case 2 and 0.61 in case 3. The clinical course of all the patients was static, and all symptoms of the combined muscle and brain involvement persisted. Nor were any changes in the cerebellar hypoplasia observed at repeat MRIs. Findings obtained by us on the longitudinal study and a review of the literature indicate that cerebellar hypoplasia and merosin-positive CMD constitute a particular clinical phenotype, mainly characterized by an ataxic syndrome associated with a non-severe muscular involvement and a possible mild intellectual impairment.
 ...
PMID:Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype. 1124 59