Myotonia Congenita Information Page

Myotonia Congenita Information Page


What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country.  Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder.  Additional research is focused on developing animal models of the disorder to test potential treatments and therapies. 

Information from the National Library of Medicine’s MedlinePlus
Myotonia Congenita

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What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country.  Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder.  Additional research is focused on developing animal models of the disorder to test potential treatments and therapies. 

Information from the National Library of Medicine’s MedlinePlus
Myotonia Congenita

The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country.  Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder.  Additional research is focused on developing animal models of the disorder to test potential treatments and therapies. 

Information from the National Library of Medicine’s MedlinePlus
Myotonia Congenita

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Definition
Definition
Treatment
Treatment
Prognosis
Prognosis
Clinical Trials
Clinical Trials
Organizations
Organizations
Publications
Publications
Definition
Definition

Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles. 

×
Definition

Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles. 

Treatment
Treatment

Most people with myotonia congenita don’t require special treatments.  Stiff muscles usually resolve with exercise, or light movement, especially after resting.  For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin.  Physical therapy and other rehabilitative therapies are also sometimes used to improve muscle function. 

×
Treatment

Most people with myotonia congenita don’t require special treatments.  Stiff muscles usually resolve with exercise, or light movement, especially after resting.  For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin.  Physical therapy and other rehabilitative therapies are also sometimes used to improve muscle function. 

Definition
Definition

Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles. 

Treatment
Treatment

Most people with myotonia congenita don’t require special treatments.  Stiff muscles usually resolve with exercise, or light movement, especially after resting.  For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin.  Physical therapy and other rehabilitative therapies are also sometimes used to improve muscle function. 

Prognosis
Prognosis

Most individuals with myotonia congenita lead long, productive lives.  Although muscle stiffness may interfere with walking, grasping, chewing, and swallowing, it is usually relieved with exercise.

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Most individuals with myotonia congenita lead long, productive lives.  Although muscle stiffness may interfere with walking, grasping, chewing, and swallowing, it is usually relieved with exercise.

Prognosis
Prognosis

Most individuals with myotonia congenita lead long, productive lives.  Although muscle stiffness may interfere with walking, grasping, chewing, and swallowing, it is usually relieved with exercise.

Definition

Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles. 

Treatment

Most people with myotonia congenita don’t require special treatments.  Stiff muscles usually resolve with exercise, or light movement, especially after resting.  For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin.  Physical therapy and other rehabilitative therapies are also sometimes used to improve muscle function. 

Prognosis

Most individuals with myotonia congenita lead long, productive lives.  Although muscle stiffness may interfere with walking, grasping, chewing, and swallowing, it is usually relieved with exercise.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country.  Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder.  Additional research is focused on developing animal models of the disorder to test potential treatments and therapies. 

Information from the National Library of Medicine’s MedlinePlus
Myotonia Congenita

Patient Organizations
Muscular Dystrophy Association
National Office - 222 S. Riverside Plaza
Suite 1500
Chicago
IL
Chicago, IL 60606
Tel: 800-572-1717
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health, DHHS
31 Center Dr., Rm. 4C02 MSC 2350
Bethesda
MD
Bethesda, MD 20892-2350
Tel: 301-496-8190; 877-22-NIAMS (226-4267)
Patient Organizations