Living with Autosomal recessive limb-girdle muscular dystrophy type 2Q
An inherited muscle condition with weakness that starts in early childhood and slowly worsens.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2Q
Children may have occasional falls and trouble climbing stairs. The condition gets worse over time, and the ability to walk is lost in early adulthood. Muscle wasting and multiple stiff joints (contractures) have been reported in rare cases.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble climbing stairs
- Frequent falls
- Weakness of the hip and shoulder muscles
- Delayed motor skills
- Gowers sign (using hands to push up from the floor)
- Loss of ability to walk
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 PLEC 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 PLEC 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 2q; autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; lgmd type 2q; lgmd2q; lgmdr17; limb-girdle muscular dystrophy type 2q
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2Q · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2Q · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2Q.
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