What muscles are affected by myotonia?
Myotonic muscular dystrophy is a common multi-system disorder that affects the skeletal muscles (the muscles that move the limbs and trunk) as well as smooth muscles (the muscles that control the digestive system) and cardiac muscles of the heart.
What type of muscle cell is affected by myotonia congenita?
Myotonia congenita is an inherited disorder of skeletal muscle in which muscle stiffness is the only complaint. Autosomal dominant and autosomal recessive forms are related to different mutations of the skeletal muscle chloride channel gene on chromosome 7.
How does myotonia congenita affect the muscular system?
Myotonia congenita is a rare disease in which your muscles aren’t able to relax immediately after they contract. This condition can lead to muscle stiffness that affects your ability to move. Myotonia congenita can also increase the size of your muscles and cause muscle cramping.
Is myotonia congenita a muscular dystrophy?
Myotonia congenita is an inherited myopathy, a disease that causes problems with the tone and contraction of skeletal muscles. It doesn’t cause muscle atrophy (shrinkage); instead, it sometimes can cause muscle enlargement and increased muscle strength.
What protein is affected in myotonia congenita?
Table A.
| Gene | Chromosome Locus | Protein |
|---|---|---|
| CLCN1 | 7q34 | Chloride channel protein 1 |
Is myotonia congenita a genetic disorder?
Myotonia congenita is a rare genetic disorder in which an abnormality of voluntary (skeletal) muscle fiber membranes causes an unusually exaggerated response to stimulation (hyperexcitability).
What is myotonia congenita (Thomsen disease)?
Myotonia Congenita (Thomsen Disease and Becker Type) What is myotonia congenita? Myotonia congenita is an inherited myopathy, a disease that causes problems with the tone and contraction of skeletal muscles. It doesn’t cause muscle atrophy (shrinkage); instead, it sometimes can cause muscle enlargement and increased muscle strength.
How does myotonia congenita affect the body?
Myotonia congenita affects the chloride channels on your muscle membrane. This disease is classified as a non-dystrophic myotonia disorder — the structure of your muscle remains intact, but the electrical process that regulates your muscle contraction is abnormal. Some people have mild muscle stiffness.
What is the prognosis of Thomsen type myotonia?
As in Thomsen type myotonia congenita, affected individuals develop myotonia, associated muscle rigidity, and abnormal muscle enlargement (hypertrophy). The symptoms tend to remain constant, with little progression. Becker disease is inherited as an autosomal recessive trait.
How old do you have to be to have myotonia congenita?
You have myotonia congenita from birth, but people usually don’t notice symptoms until they’re older. Becker disease: Becker disease is the most common type of myotonia congenita. This condition causes attacks of muscle weakness, often in your arms and legs. Becker disease symptoms usually appear around 4 to 12 years old.
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