Myotonic dystrophy is an autosomal dominant genetic disorder caused by a mutation in the DMPK gene on chromosome 19.
Diagnosis is based on medical history and physical examination findings such as muscle wasting, myotonia, and cardiac and ocular abnormalities. Additional tests such as electromyography, genetic testing, and blood tests may also be used to confirm the diagnosis.
Differential diagnosis of myotonic dystrophy includes other forms of muscular dystrophy, congenital myopathies, and metabolic myopathies.
Treatment for myotonic dystrophy is focused on managing the symptoms and preventing complications. This may include physical and occupational therapy, medications to control muscle spasms and pain, and surgery to correct some of the physical deformities that can develop.
The prognosis for myotonic dystrophy varies depending on the severity of the condition and the age of onset. Generally, the earlier the onset, the greater the severity of the disease and the poorer the prognosis.