Is myotonia congenita the same as myotonic dystrophy?
DM2 is also known as Proximal myotonic myopathy or PROMM. Myotonic dystrophy should not be confused with other disorders with similar names (e.g.myotonia congenita [Thomsen’s disease] and congenital muscular dystrophy).
Does myotonia congenita get worse with age?
Though myotonia congenita starts in childhood, it usually doesn’t get worse over time. You or your child should be able to lead a normal, active life with this condition. The muscle stiffness can affect movements like walking, chewing, and swallowing, but exercise and medicine can help.
Can myotonia congenita be inherited?
Becker type myotonia congenita is inherited as an autosomal recessive trait. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.
Is myotonia congenita a form of muscular dystrophy?
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder….
| Myotonia congenita | |
|---|---|
| Causes | Genetic, CLCN1 mutations |
| Diagnostic method | Clinical, genetic testing |
| Differential diagnosis | Myotonic dystrophy, Paramyotonia congenita |
Is myotonia congenita curable?
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.
What are 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 happens in myotonia congenita?
Can myotonia congenita affect the heart?
This is a decrease in muscle stiffness that occurs with repeated movements. Myotonia congenita only affects skeletal muscles. It does not affect muscles of the internal organs, such as the muscles that control the heart, breathing, or digestive system.
What is myotonia congenita?
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally.
What are the two types of myotonia congenita?
Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
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.
Is there any treatment for myotonia congenita?
Mexiletine – this is a sodium channel blocker and is the best documented treatment option.
What does myotonia congenita mean?
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally.