/mitochondrial DNA depletion syndrome, myopathic form

mitochondrial DNA depletion syndrome, myopathic form

Rare Disease

MONDO:0012301

Also Known As

thymidine kinase 2 deficiencymitochondrial DNA depletion syndrome type 2mtDNA depletion syndrome, myopathic formMTDPS2mitochondrial DNA depletion myopathy, Tk2-relatedmitochondrial DNA depletion syndrome 2mitochondrial DNA depletion syndrome 2 (myopathic type)

Definition

A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.