Living with Autosomal recessive limb-girdle muscular dystrophy type 2R1
A rare inherited muscle condition with weakness in the arms and legs that starts in adulthood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2R1
Weakness and wasting affect the upper arms and legs. Shoulder blades can stick out, and independent walking can be lost. Breathing may become weaker over time. Muscle scans show fat replacing parts of the thigh muscles.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the upper leg muscles
- Muscle wasting
- Winged shoulder blades (scapular winging)
- Fat replacing muscle tissue
- Loss of ability to walk
- Weaker breathing (possible)
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 and genetic specialists.
- 3Consider genetic testing
Changes in POGLUT1 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
The Speak Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Speak 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 The Speak Foundation
- 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 POGLUT1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive limb girdle muscular dystrophy type 2z; autosomal recessive limb-girdle muscular dystrophy caused by mutation in poglut1; autosomal recessive limb-girdle muscular dystrophy type 2z; lgmd type 2z; lgmd2z; lgmdr21
Patient organizations
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2R1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2R1.
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