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

In the adductor pollicis muscle of patients with limb-girdle and facioscapulohumeral muscular dystrophies and possible carriers of Duchenne type muscular dystrophy, abnormal active state properties were found at the time when there was no alteration of needle electromyography and evoked muscle action potentials. Adrenaline induced a marked reduction of incomplete tetanus via beta receptors without change in neuromuscular transmission.
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PMID:Contractility and supersensitivity to adrenaline in dystrophic muscle. 115 15

Two 10-year-old boys with mental retardation and myopathy which were present since birth are described. Both had elevated serum creatine phosphokinase (CK) and one of them had a positive family history. The clinical features were consistent with Fukuyama type congenital muscular dystrophy, but muscle biopsies suggested an inflammatory process. Adrenal cortical steroids were given and they were followed up until 10 years of age. Serum CK showed a significant response to the treatment, and mental retardation in case 1 and motor dysfunction in case 2 improved. It is postulated that an inflammatory process might be a causative factor in some patients with congenital muscular dystrophy.
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PMID:Ten years follow up study of steroid therapy for congenital encephalomyopathy. 376 4

Adrenal hypoplasia congenita (AHC) can occur due to deletions or mutations in the DAX 1 (NR0B1) gene on the X chromosome (OMIM 300200). This form of AHC is therefore predominantly seen in boys. Deletion of the DAX 1 gene can also be part of a larger contiguous deletion including the centromeric dystrophin and glycerol kinase (GK) genes. We report a girl with a de novo deletion at Xp21.2 on the maternal chromosome, including DAX1, the GK gene and 3' end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of muscular dystrophy. Investigation using the androgen receptor as a marker gene identified skewed inactivation of the X chromosome. In the patient's leucocytes, the paternal X chromosome was completely inactive, but in muscle 20% of the active chromosomes were of paternal origin. Thus skewed X inactivation (deletion on the active maternal X chromosome with an inactive paternal X chromosome) is associated with AHC in a female. Variability in X inactivation between tissues may account for the pronounced salt loss and adrenal insufficiency but mild muscular dystrophy.
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PMID:Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. 1876 70