Compton-North congenital myopathy

Compton-North congenital myopathy is a rare genetic disorder characterized by severe muscle weakness and low muscle tone (hypotonia) present at birth. The condition is named after the researchers, Dr. Compton and Dr. North, who first described it.

Symptoms

The primary symptom of Compton-North congenital myopathy is severe muscle weakness, which is present from birth. This can lead to difficulties with movement and may affect breathing. Other symptoms can include joint deformities (contractures), a curved spine (scoliosis), and facial weakness.

Causes

Compton-North congenital myopathy is caused by mutations in specific genes that are involved in the development and function of muscles. These mutations lead to the production of abnormal proteins, which disrupt the normal functioning of muscle cells. This results in the muscle weakness and other symptoms seen in the condition.

Diagnosis

Diagnosis of Compton-North congenital myopathy is based on the presence of characteristic symptoms, a physical examination, and confirmed by genetic testing. Muscle biopsy may also be performed to examine the muscle tissue under a microscope.

Treatment

There is currently no cure for Compton-North congenital myopathy. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy, respiratory support, and management of any associated conditions.

Prognosis

The prognosis for individuals with Compton-North congenital myopathy varies. Some individuals may have a normal lifespan with mild disability, while others may experience severe disability and life-threatening complications.

See also

• Congenital myopathy
• Genetic disorder
• Muscle weakness

NIH genetic and rare disease info

• NIH info on Compton-North congenital myopathy

Compton-North congenital myopathy is a rare disease.