Overview
Myopathy and diabetes mellitus is a very rare condition in which a person develops both muscle disease (myopathy) and diabetes. The muscle problems cause progressive weakness, meaning the muscles gradually become weaker over time. This weakness often affects the muscles closest to the center of the body, such as the hips and shoulders, making it harder to climb stairs, lift objects, or get up from a seated position. At the same time, the body has trouble controlling blood sugar levels, leading to diabetes mellitus. The diabetes in this condition may resemble either type 1 or type 2 diabetes and requires careful management to prevent complications like nerve damage, kidney problems, and vision loss. Because this condition is extremely rare, the exact underlying cause is not fully understood in all cases. Some forms may be linked to mitochondrial dysfunction, where the tiny energy-producing structures inside cells do not work properly. Mitochondria are especially important in muscles and in the cells that produce insulin, which may explain why both systems are affected. Treatment focuses on managing symptoms: physical therapy and supportive care for muscle weakness, and insulin or other medications for blood sugar control. There is currently no cure, and patients benefit from a team of specialists working together to address both the muscle and metabolic aspects of the disease.
Key symptoms:
Progressive muscle weaknessDifficulty climbing stairsTrouble lifting arms above the headFatigue and low energyHigh blood sugar levelsIncreased thirst and frequent urinationUnexplained weight lossMuscle wasting or thinningDifficulty getting up from a chair or the floorExercise intoleranceTingling or numbness in hands and feet from diabetes complicationsBlurred vision related to blood sugar changes
Clinical phenotype terms (32)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsImpactiv, Inc. — NA
University of Aarhus
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Myopathy and diabetes mellitus.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Myopathy and diabetes mellitus.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the likely underlying cause of my myopathy and diabetes, and should I have genetic testing?,How quickly might my muscle weakness progress, and what can I do to slow it down?,What is the best way to manage my diabetes given my muscle condition?,Are there any clinical trials or experimental treatments I should know about?,Which other organs should be screened, and how often?,Should my family members be tested for this condition?,What kind of physical therapy or exercise program is safe and helpful for me?
Common questions about Myopathy and diabetes mellitus
What is Myopathy and diabetes mellitus?
Myopathy and diabetes mellitus is a very rare condition in which a person develops both muscle disease (myopathy) and diabetes. The muscle problems cause progressive weakness, meaning the muscles gradually become weaker over time. This weakness often affects the muscles closest to the center of the body, such as the hips and shoulders, making it harder to climb stairs, lift objects, or get up from a seated position. At the same time, the body has trouble controlling blood sugar levels, leading to diabetes mellitus. The diabetes in this condition may resemble either type 1 or type 2 diabetes an
Are there clinical trials for Myopathy and diabetes mellitus?
Yes — 2 recruiting clinical trials are currently listed for Myopathy and diabetes mellitus on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Myopathy and diabetes mellitus?
21 specialists and care centers treating Myopathy and diabetes mellitus are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.