Living with Desmin-related myofibrillar myopathy
A rare genetic muscle disease that causes weakness that spreads from the legs and often affects the heart.
Understanding Desmin-related myofibrillar myopathy
Weakness usually starts in the lower legs and spreads upward. It can involve the trunk, neck, and face. Many people also have heart muscle disease with rhythm and conduction problems. Over time weakness can lead to wheelchair use, and breathing muscles can become weak. Onset and speed of change vary.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower leg muscles
- Weakness in trunk muscles
- Abnormal walk
- Thickened heart muscle (cardiomyopathy)
- Heart block (rhythm problems)
- Weak breathing muscles
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 heart and blood vessel specialists.
- 3Consider genetic testing
Changes in DES 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
Muscular Dystrophy Association and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Muscular Dystrophy Association, Children's Cardiomyopathy Foundation
- 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 Muscular Dystrophy Association 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
Changes in the DES gene cause this condition. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: autosomal recessive limb-girdle muscular dystrophy caused by mutation in des; autosomal recessive limb-girdle muscular dystrophy type 2r; des autosomal recessive limb-girdle muscular dystrophy; des myofibrillar myopathy (disease); desmin related myopathy (former name); desmin storage myopathy (former name)
Patient organizations
- Muscular Dystrophy AssociationDesmin-related myofibrillar myopathy · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Desmin-related myofibrillar myopathy.
Explore research for Desmin-related myofibrillar myopathy
Explore actively recruiting Desmin-related myofibrillar myopathy studies with HealthSpark.
Find actively recruiting studies for Desmin-related myofibrillar myopathy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Desmin-related myofibrillar myopathy studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Desmin-related myofibrillar myopathy
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Desmin-related myofibrillar myopathy experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.