Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

Log in / Sign up

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, 1 tagged with Metabolic myopathy itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Myopathy (987)

Sub-types of Metabolic myopathy

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

Including sub-types (3) Tagged with Metabolic myopathy (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