Conditions / Musculoskeletal
Kearns-Sayre syndrome
info · Musculoskeletal · ICD-10: H49.81
A chronic progressive external ophthalmoplegia characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and one or more of heart block, cerebellar ataxia, or a cerebrospinal fluid protein level above 100 mg/dl, that has_material_basis_in
A chronic progressive external ophthalmoplegia characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and one or more of heart block, cerebellar ataxia, or a cerebrospinal fluid protein level above 100 mg/dl, that has_material_basis_in deletion of mitochondrial DNA. Onset is before 20 years of age.
Signs and symptoms
- Short stature
- Seizure
- Pigmentary retinopathy
- Ataxia
- Arrhythmia
- Diabetes mellitus
- Third degree atrioventricular block
- Renal tubular acidosis
- Sideroblastic anemia
- Muscle weakness
Also known as: KSS