| MD | Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major... |
|---|---|
| MDPK | myotonic dystrophy protein kinase |
| MMD | mass median diameter; minimum morbidostatic dose; moyamoya disease; myotonic muscular dystrophy |
| MyD | myotonic dystrophy |
| MyMD | myotonic muscular dystrophy |
| CMD | Congenital myotonic dystrophy |
|---|---|
| MD | Myotonic Dystrophy |
| MyD | Myotonic Dystrophy |
| MMD | Myotonic muscular dystrophy |
| MyD | Myotonic muscular dystrophy |
| myotonic | Pertaining to or exhibiting myotonia. (05 Mar 2000) |
|---|---|
| myotonic cataract | Cataract occurring in myotonic dystrophy. (05 Mar 2000) |
| myotonic dystrophy | <neurology> An inherited human neuromuscular disease classed as an autosomal dominant disease in which there is progressive muscle weakening and wasting. A triplet repeat syndromes (like fragile X syndrome), this most common adult form of muscular dystrophy is caused by expansion of the unstable trinucleotide repeat CTG in the 3' untranslated region on chromosome 19q13 (cAMP-dependent muscle protein kinase gene). Anticipation has been associated with further expansion of the repeat upon transmission to subsequent generations (the inheritance pattern is autosomal dominant), although contraction has been noted to occur as well. Especially severe neonatal cases have been born to affected mothers preferentially, suggesting a role for genomic imprinting as well. The classic physical signs include atrophy of facial muscles, cataracts, and delayed muscle relaxation. Detection of the expanded trinucleotide repeat is accomplished by PCR or Southern blot and expansion appears to correlate with decreased transcription of the protein kinase gene. Inheritance: autosomal dominant. (29 Dec 1997) |
| dystrophy, myotonic | Inherited disease with myotonia (irritability and prolonged contraction of muscles), mask-like face, premature balding, cataracts, and cardiac disease. Due to a trinucleotide repeat (a stuttering sequence of three bases) in the DNA. (12 Dec 1998) |
| asphyxiating thoracic chondrodystrophy | Hereditary hypoplasia of the thorax, associated with pelvic skeletal abnormality. Synonym: asphyxiating thoracic chondrodystrophy, Jeune's syndrome, thoracic-pelvic-phalangeal dystrophy. (05 Mar 2000) |
| asymmetrical chondrodystrophy | Benign growths of cartilage in the metaphyses of several bones. (12 Dec 1998) |
| chondrodystrophy | A disturbance in the development of cartilage, primarily the long bones. This can result in arrested growth and dwarfism. (27 Sep 1997) |
| hereditary deforming chondrodystrophy | A disturbance of enchondral bone growth in which multiple, generally benign osteochondromas of long bones appear during childhood, commonly with shortening of the radius and fibula; the ill-effects are usually mechanical but malignant change is rare; autosomal dominant inheritance. Synonym: diaphysial aclasis, hereditary deforming chondrodystrophy, multiple exostosis, osteochondromatosis. (05 Mar 2000) |
| hypoplastic foetal chondrodystrophy | A developmental error of the epiphyses characterised by severe deformities, epiphyses ossified from several discrete centres and with a stippled appearance, and thickened shafts of the long bones; congenital cataract and mental retardation are often present. There is an autosomal dominant form and an autosomal recessive form. Synonym: chondrodysplasia punctata, chondrodystrophia calcificans congenita, hypoplastic foetal chondrodystrophy, stippled epiphysis. (05 Mar 2000) |
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