Classic symptoms of mitochondrial myopathy

Classic symptoms of mitochondrial myopathy

What symptoms are classic for a mitochondrial myopathy? 

Although the degree of impairment varies, most mitochondrial myopathies are associated with nonfluctuating, insidiously progressive ptosis and ophthalmoplegia.

Actual diplopia is rare. Other involved organ systems include the following:

• Cardiac (conduction abnormalities and cardiomyopathy)

• Gastrointestinal (pseudo-obstruction)

• Endocrine (diabetes, goiter, short stature)

• Central nervous system (ataxia, deafness, seizures, cerebrovascular ischemia, neuropathy)

• Skin (lipomas)

• Eye (retinitis pigmentosa, cataracts)

• Ear (deafness)


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