What is centronuclear myopathy?
Centronuclear myopathy is a rare condition that is characterized by muscle weakness and wasting, along with a displaced nucleus in the muscle cells.
What are the symptoms of centronuclear myopathy?
The major symptom of this condition is progressive muscle weakness. As this can present any time from birth to early adulthood, this symptom has the potential to cause delay of motor skills, muscle pain during exercise, and issues with walking and other movements.
If the muscles needed to breathe are weak, there is the chance that mild to severe respiratory issues could occur. Other symptoms include droopy eyelids, weakness in the muscles of the face, scoliosis, foot abnormalities, and a high-arched palate. In rare cases, cardiomyopathy, intellectual disability, and neuropathy are symptoms.
What causes centronuclear myopathy?
There are multiple genes that can be mutated to cause centronuclear myopathy, including the DNM2, BIN1, and TTN genes. All of these genes result in issues with the contraction and relaxation of the muscles. These genes are not the only ones that cause this condition; others have yet to be identified.
The DNM2 gene is inherited in an autosomal dominant pattern, while the other two are inherited in an autosomal recessive pattern. In very rare cases, the BIN1 gene is passed down in an autosomal dominant pattern.
How is centronuclear myopathy diagnosed?
Recognizing the characteristic symptoms is the first step in diagnosing this condition. Doctors will also evaluate family and patient history, perform a clinical evaluation, and utilize tests. These tests include muscle biopsies, MRIs, and genetic testing.
What are the treatments for centronuclear myopathy?
Treatment is symptomatic for centronuclear myopathy. For those with mild cases, treatment may not be necessary. On the other hand, severe cases require constant ventilation. Some cases may also require a feeding tube. Physical and occupational therapy are recommended as well.