Autosomal recessive centronuclear myopathy is an inherited disorder that causes a weakness of muscles. The genes in the body come in pairs. One gene is from the mother and one is from the father. An autosomal recessive condition occurs when both the mother and father pass the changed (mutated) gene to the child. Symptom onset most commonly occurs between birth and childhood. It can lead to weak muscles in the face, especially the muscles used for eating food, droopy eyelids, less control over muscles used to move the eyes or eyelids, poblems with feet or the shape of other bones, difficulty breathing, or urinating accidents.
Autosomal recessive centronuclear myopathy can be diagnosed by having a doctor look at muscle tissue under a microscope or by genetic testing. Currently, the only form of treatment is to manage the symptoms. This is often not life threatening and mainly deals with weakness of muscles. It is advised to meet with a genetic counselor to discuss the condition. If you or a family member has been diagnosed with autosomal recessive centronuclear myopathy, talk with your doctor about the most current treatment options as well as signs that you may need immediate medical attention. Support groups are also good sources for support and information that you may consider contacting.