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myotonia atrophica
Thesaurus| Noun | 1.myotonia atrophica - 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 dominantmyotonic dystrophy, myotonic muscular dystrophy, Steinert's diseasedystrophy, muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles |
EncyclopediaSeeMyotoniamyotonia atrophica
myotonia [mi″o-to´ne-ah] any disorder involving tonic spasm of muscle. adj., adj myoton´ic.myotonia atro´phica dystrophy" >myotonic dystrophy.myotonia conge´nita a hereditary disease marked by tonic spasm and rigidity of certain muscles when attempts are made to move them. The stiffness tends to disappear as the muscles are used.myotonia dystro´phica dystrophy" >myotonic dystrophy.my·o·ton·ic dys·tro·phy [MIM*160900] the most common adult muscular dystrophy, characterized by progressive muscle weakness and wasting of some of the cranial innervated muscles, as well as the distal limb muscles; other clinical features include myotonia, cataracts, hypogonadism, cardiac abnormalities, and frontal balding; onset usually in the the third decade; autosomal dominant inheritance caused by abnormal trinucleotide repeat expansion in the dystrophia myotonica protein kinase gene (DMPK) on chromosome 19q. This disorder demonstrates anticipation (increase in severity in successive generations because of successive amplification of the trinucleotide repeats); the severe congenital form is almost always confined to the children of affected women. Synonym(s): dystrophia myotonica, myotonia atrophica, myotonia dystrophica, Steinert diseasemyotonia (mi?o-to'ne-a) [ myo- + tono- + -ia] Tonic spasm of a muscle or temporary rigidity after muscular contraction. myotonic (-ton'ik), adjectivemyotonia atrophicaMyotonia dystrophica.myotonia congenitaA benign disease characterized by tonic spasms of the muscles induced by voluntary movements. The condition is usually congenital and is transmitted by either dominant or recessive genes. Synonym: amyotonia congenita; myotonic atrophyOppenheim's disease; Thomsen's diseaseSymptomsThe disease appears in early childhood and is manifested by a tonic spasm of the muscles every time the muscles are used. In a few minutes, rigidity wears away, and the movements become free from repeated contractions, the muscles becoming firm and extremely well developed. TreatmentQuinine or procainamide are indicated for relief of myotonia. Neostigmine is contraindicated. Avoidance of obesity is important. PrognosisThe disease is incurable but may improve with age. myotonia dystrophicaA dominantly inherited disease characterized by muscular wasting, myotonia, and cataract. Synonym: myotonia atrophica; Steinert's diseasemyotonia atrophica
Related to myotonia atrophica: myotonic dystrophy, myotonic muscular dystrophy, myotonia dystrophicaSynonyms for myotonia atrophicanoun a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neckSynonyms- myotonic dystrophy
- myotonic muscular dystrophy
- Steinert's disease
Related Words- dystrophy
- muscular dystrophy
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