Facial muscles can be weak, generally in older individuals. Some patients complain of dysphagia. Sensoirneural hearing loss, dysarthria, and dysphonia are often associated. Neurological symptoms include ataxia, sensory neuropathy, tremors, depression and symptoms of parkinsonism but these are variable. Some patients experience rhabdomyolysis following alcohol consumption. Dilated cardiomyopathy can be a part of the autosomal recessive form of this disease.
A possible subcategory of this disease is associated with hypogonadism evidenced by delayed sexual maturation, primary amenorrhea, early menopause and testicular atrophy. Other features as described above may be associated. Muscle biopsy shows ragged-red fibers with multiple mitochondrial deletions.