Definitions for myotonia congenita
my·oto·ni·a con·geni·ta

Princeton's WordNetRate this definition:0.0 / 0 votes

1. myotonia congenita, Thomsen's diseasenoun

   a mild, rare, congenital form of myotonia characterized by muscle stiffness

ChatGPTRate this definition:0.0 / 0 votes

1. myotonia congenita

   Myotonia congenita is a hereditary neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition can cause muscle stiffness, weakness, and sometimes muscle hypertrophy, or enlargement. It is a type of non-dystrophic myotonia and is caused by mutations in the CLCN1 gene. The condition can be present from birth, but symptoms may also first appear in childhood or adolescence. There are two forms of the disorder: Becker type, which is more severe and appears in early childhood, and Thomsen disease, which is mild and can appear anytime from infancy to adolescence.

WikidataRate this definition:0.0 / 0 votes

1. Myotonia congenita

   Congenital myotonia, is a genetic, neuromuscular channelopathy that affects skeletal muscles. The disease was first described by Dansih/German physician Julius Thomsen in 1876, who himself suffered from the disease. The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity. The disorder is caused by mutations in part of a gene encoding the ClC-1 Chloride channel, resulting in muscle fiber membranes to have an unusually exaggerated response to stimulation. Symptoms include delayed relaxation of the muscles after voluntary contraction, and may also include stiffness, hypertrophy, transient weakness in some mutations, pain, and cramping. In addition to humans, it is also seen in strains of goatcanines, cats and one breed of pony.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Myotonia Congenita

   A dominantly inherited muscle disease that begins in early childhood and is characterized by severe myotonia (delayed relaxation of a muscle) after forceful voluntary contractions. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. Myotonia typically becomes less severe with repetitive voluntary contractions of the affected muscles. Generalized myotonia (of Becker) is an autosomal recessive variant of myotonia congenita that may feature more severe myotonia and muscle wasting. (From Adams et al., Principles of Neurology, 6th ed, pp1476-7; Joynt, Clinical Neurology, 1997, Ch53, p18)

Matched Categories

1. • Myotonia

How to pronounce myotonia congenita?

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How to say myotonia congenita in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of myotonia congenita in Chaldean Numerology is: 1

2. Pythagorean Numerology

   The numerical value of myotonia congenita in Pythagorean Numerology is: 2

References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=myotonia congenita
2. ^ ChatGPT
   https://chat.openai.com
3. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=myotonia congenita