What are the two types of myotonia congenita?

Two main forms of myotonia congenita have been described: Thomsen disease and Becker disease.

What are the signs and symptoms of myotonia congenita?

Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person. They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest.

What is myotonia congenita caused by?

The disorder is caused by mutations in a gene responsible for shutting off electrical excitation in the muscles. Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.

How does myotonia congenita affect muscle cell innervation?

A change, called a mutation, to the CLCN1 gene causes myotonia congenita. This gene instructs your body to make a protein that helps your muscle cells tighten and relax. The mutation causes your muscles to contract too often. Myotonia congenita is known as a chloride channel disease.

What diseases cause myotonia?

Myotonia is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle …

Are people born with myotonia?

Mild myotonic dystrophy is apparent in mid to late adulthood. Affected individuals typically have mild myotonia and cataracts. Congenital myotonic dystrophy is often apparent at birth.

How is myotonia treated?

Treatment for myotonia may include mexiletine, quinine, phenytoin, and other anticonvulsant drugs. Physical therapy and other rehabilitative measures may help muscle function. Treatment for myotonia may include mexiletine, quinine, phenytoin, and other anticonvulsant drugs.

Is myotonia a progressive disease?

It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use.

Can you live with myotonia?

Myotonic dystrophy is a progressive disease, meaning that symptoms worsen as a person gets older. Although evidence is limited, life expectancy appears to be reduced for people with myotonic dystrophy type 1 (DM1). The most common causes of death in people with DM1 are respiratory and cardiac (heart) symptoms.

Is myotonia curable?

There is currently no cure or specific treatment for myotonic dystrophy. Ankle supports and leg braces can help when muscle weakness gets worse. There are also medications that can lessen the myotonia. Other symptoms of myotonic dystrophy such as the heart problems, and eye problems (cataracts) can also be treated.

Are you born with myotonia?

Babies with congenital DM1 often are born with clubfeet, a curvature of the feet and lower legs. The problem may be due to abnormal muscle development in the lower legs and feet during fetal life. Infants with DM1 do not have myotonia at first but develop it later in life.

What is the life expectancy of someone with myotonic dystrophy?

Survival for 180 patients (from the register) with adult-onset type myotonic dystrophy was established by the Kaplan-Meier method. The median survival was 60 years for males and 59 years for females.

What is the prognosis of myotonia congenita?

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.

Is there cure for myotonia congenita?

Most cases of myotonia congenita do not require treatment. Sometimes, however, symptoms of the disorder may be relieved with quinine, phenytoin and other anticonvulsant drugs.

What is the treatment of myotonia congenita?

Treatment may include medication for muscle stiffness, such as mexiletine, carbamazepine, or phenytoin. Exercise may temporarily alleviate myotonia. People with myotonia congenita may be at increased risk for harmful side effects of anesthesia. Therefore, it is recommended that relatives of a person with the disease are tested during childhood. [3]

Is there any treatment for myotonia congenita?

Mexiletine – this is a sodium channel blocker and is the best documented treatment option.

  • Phenytoin or carbamazepine – these are anticonvulsants that have been reported to help symptoms in some people.
  • or acetazolamide (a diuretic) may help symptoms in some cases.