Living with Autosomal recessive limb-girdle muscular dystrophy type 2P
An inherited muscle condition with weakness and intellectual disability that begins in early childhood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2P
Weakness mainly affects muscles near the center of the body and starts in early childhood, with trouble walking and climbing stairs. Intellectual disability ranges from mild to severe. Other features include a small head, mildly larger thigh or calf muscles, and tight ankles.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble climbing stairs
- Delayed motor skills
- Waddling, unsteady walk
- Enlarged calf muscles
- Intellectual disability
- Limb-girdle 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 and genetic specialists.
- 3Consider genetic testing
Changes in DAG1 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 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: Muscular Dystrophy Association, 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 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 DAG1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: alpha-dystroglycan-related lgmd r16; alpha-dystroglycan-related limb-girdle muscular dystrophy r16; autosomal recessive limb girdle muscular dystrophy type 2p; autosomal recessive limb-girdle muscular dystrophy caused by mutation in dag1; dag1 autosomal recessive limb-girdle muscular dystrophy; lgmd type 2p
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2P · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2P · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2P.
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