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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
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CMD Congenital myotonic dystrophy
MD Myotonic Dystrophy
MyD Myotonic Dystrophy
MMD Myotonic muscular dystrophy
MyD Myotonic muscular dystrophy
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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)
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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)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 2 ÆäÀÌÁö: 1
  • Myotonic Disorders - »õâ Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition. These disorders may be associated with abnormal muscle SODIUM CHANNEL and CHLORIDE CHANNELS. MYOTONIC DYSTROPHY and MYOTONIA CONGENITA represent two relatively common forms of this disorder. Proximal myotonic myopathy often presents with myotonia and muscle pain in early adulthood and later in life thigh muscle weakness and cataracts develop. (From Adams et al., Principles of Neurology, 6th ed, p1392)
    Synonyms : Eulenburg Disease, Eulenburg's Disease, PROMM (Proximal Myotonic Myopathy), Proximal Myotonic Myopathy, Congenita, Paramyotonia, Disease, Eulenburg, Disease, Eulenburg's, Disorder, Myotonic, Disorders, Myotonic, Eulenburgs Disease, Fluctuans, Myotonia
  • Myotonic Dystrophy - »õâ An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)
    Synonyms : Congenital Myotonic Dystrophy, Myotonia Atrophica, Myotonia Dystrophica, Steinert's Disease, Congenital Myotonic Dystrophies, Dystrophies, Congenital Myotonic, Dystrophies, Myotonic, Dystrophy, Congenital Myotonic, Dystrophy, Myotonic, Myotonic Dystrophies
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myotonic of or relating to or caused by myotonia
Ãâó: wordnet.princeton.edu/perl/webwn
myotonic dystrophy myotonic muscular dystrophy: a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant
Ãâó: wordnet.princeton.edu/perl/webwn
myotonic dystrophy Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited disease that can manifest at any age from birth to old age. It is characterized by a wasting of the muscles (muscular dystrophy), opacity of the lens of the eyes (cataracts), heart conduction defects and myotonia (difficulty relaxing a muscle). ...
Ãâó: en.wikipedia.org/wiki/Myotonic_dystrophy
myotonic discharge high frequency repetitive discharges seen in myotonia and evoked by insertion of a needle electrode, percussion of a muscle, or stimulation of a muscle or its motor nerve; characterized by waxing and waning of frequency and amplitude. There are two types: one with biphasic spike potentials resembling fibrillation potentials and one with waves resembling positive sharp waves.
Ãâó: www.merckmedicus.com/pp/us/hcp/thcp_dorlands_conte...
myotonic dystrophy a rare, slowly progressive, hereditary disease transmitted as an autosomal dominant trait, characterized by myotonia followed by atrophy of the muscles (especially those of the face and neck), cataracts, hypogonadism, frontal balding, and cardiac abnormalities; called also dystrophia myotonica, myotonia atrophica, and Steinert's disease.
Ãâó: www.merckmedicus.com/pp/us/hcp/thcp_dorlands_conte...
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myotonic of or relating to or caused by myotonia
myotonic a severe form of muscular dystrophy marked by facial weakness and drooping eyelids and difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips
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