Mitochondrial DNA depletion syndrome, myopathic form

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.

Also known as mitochondrial DNA depletion syndrome type 2, mtDNA depletion syndrome, myopathic form — per MONDO

Also identified as

• DOID 0080120 per MONDO
• ICD9 359.89 per MONDO
• MESH C563698 per MONDO
• OMIM 609560 per MONDO
• Orphanet 254875 per MONDO
• SCTID 703527003 per MONDO
• UMLS C3149750 per MONDO