Conditions / Genetic
mitochondrial DNA depletion syndrome 18
info · Genetic
A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene
A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3.
Signs and symptoms
- Clonus
- Scoliosis
- Distal amyotrophy
- Areflexia
- Distal muscle weakness
- Elevated urinary quinolinic acid level
- Weakness of facial musculature
- Hand muscle atrophy
- Failure to thrive
- Reduced forced vital capacity