Living with Autosomal recessive limb-girdle muscular dystrophy type 2M
An inherited muscle condition with low muscle tone and weakness that begins in infancy.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2M
Weakness affects the trunk and the upper legs, and can be especially severe after fevers. Heart muscle disease (cardiomyopathy) can occur. Intelligence is normal or reduced. Enlarged calves, thighs, and triceps have been reported in some people.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Weakness in upper arm and upper leg muscles
- Delayed motor skills
- Frequent falls
- Enlarged calf muscles
- Progressive muscle weakness
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 FKTN 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, The Speak Foundation 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, The Speak Foundation, 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
It is caused by changes in the FKTN gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive lgmd type 2m; autosomal recessive limb girdle muscular dystrophy type 2m; autosomal recessive limb-girdle muscular dystrophy caused by mutation in fktn; fktn autosomal recessive limb-girdle muscular dystrophy; fukutin-related lgmd r13; fukutin-related limb-girdle muscular dystrophy r13
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2M · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2M · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2M.
Explore research for Autosomal recessive limb-girdle muscular dystrophy type 2M
Explore actively recruiting Autosomal recessive limb-girdle muscular dystrophy type 2M studies with HealthSpark.
Find actively recruiting studies for Autosomal recessive limb-girdle muscular dystrophy type 2M 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 Autosomal recessive limb-girdle muscular dystrophy type 2M 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 Autosomal recessive limb-girdle muscular dystrophy type 2M
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 Autosomal recessive limb-girdle muscular dystrophy type 2M 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.