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Metabolic myopathy

MONDO:0020123

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.

3 clinical trials for this condition and its sub-types.

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Sub-types

Autosomal dominant mitochondrial myopathy with exercise intolerance (0) Endocrine myopathy (0) Hereditary myopathy with lactic acidosis due to ISCU deficiency (0) Metabolic myopathy due to lactate transporter defect (0)

Broader categories

Disease (717) Musculoskeletal system disorder (214) Muscle tissue disorder (56) Human disease (15) Myopathy (14) Skeletal muscle disorder (10) Disease by body system or component (0)

Trials to join now! 2 Completed 1

Can a breath test reveal how muscles make energy? tiny study explores new way to track treatment effects

Knowledge-focused Completed

This small pilot study looked at whether simple breath and urine tests can measure how well muscles produce energy in children with metabolic myopathies (rare muscle disorders). Three participants completed a 12-week at-home physiotherapy program. The goal was to see if these non…

Sponsor: University of British Columbia • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:02 UTC