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metabolic myopathy

A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.

Therapeutic area
Endocrine / Metabolic
Rarity
Unknown
Prevalence
—
MONDO
MONDO:0020123

Overview

A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.

Content last reviewed: 2026-06