Visceral myopathy familial external ophthalmoplegia

Overview

A very rare form of muscle wasting disease involving the eye and gastrointestinal muscles.

Symptoms

* Ptosis * Intestinal pseudoobstruction * Weak eyelids * Visual difficulties * Ocular paresis

Causes

Muscular dystrophy is caused by various genetic mechanisms. Duchenne’s and Becker’s muscular dystrophies are X-linked recessive disorders. Both result from defects in the gene coding for the muscle protein dystrophin; the gene has been mapped to the Xp21 locus. The incidence muscular dystrophy is about 1 in 651,450 persons in the United States. Duchenne’s and Becker’s muscular dystrophies affect males almost exclusively. Facioscapulohumeral dystrophy is an autosomal dominant disorder. Limb-girdle dystrophy is usually autosomal recessive. These two types affect both sexes about equally.

Diagnosis

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Visceral myopathy familial external ophthalmoplegia. This medical information about signs and symptoms for Visceral myopathy familial external ophthalmoplegia has been gathered from various sources, may not be fully accurate, and may not be the full list of Visceral myopathy familial external ophthalmoplegia signs or Visceral myopathy familial external ophthalmoplegia symptoms. Furthermore, signs and symptoms of Visceral myopathy familial external ophthalmoplegia may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Visceral myopathy familial external ophthalmoplegia symptoms.