Living with Mitochondrial myopathy with diabetes
A rare genetic condition with slowly worsening muscle weakness, especially in the face and shoulders, along with insulin-dependent diabetes.
Understanding Mitochondrial myopathy with diabetes
It causes slowly worsening muscle weakness, more in the muscles near the center of the body than in the arms and legs. It mainly involves the face and shoulder muscles. Nervous system involvement and a muscle condition present from birth may sometimes be seen. It can begin at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slowly worsening muscle weakness near the center of the body
- Weak shoulder muscles
- Type 1 diabetes
- Difficulty climbing stairs and running
- Poor tolerance for exercise
- Overactive reflexes in the legs
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in MT-TE are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Mitochondrial Disease Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the MT-TE gene, which is part of mitochondrial DNA. GARD lists mitochondrial inheritance.
Also known as: mitochondrial myopathy, lipid type; myopathy and diabetes mellitus
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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