Living with Autosomal recessive limb-girdle muscular dystrophy type 2L
An inherited muscle condition with slowly worsening weakness in the legs, usually starting in adulthood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2L
Onset ranges from age 11 to 51. Weakness is mainly in the upper legs, and trouble standing on tiptoe is one of the first signs. Weakness in the upper arms and lower legs is also common, with wasting of the thigh muscle. It progresses slowly, and most people keep walking until late adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the upper leg muscles
- Weakness in the lower leg muscles
- Wasting of the thigh muscle (quadriceps)
- Muscle pain after exercise
- Muscle aches
- Enlarged calf muscles (reported in some)
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 ANO5 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 LGMD2L Foundation 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 ANO5 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ano5 autosomal recessive limb-girdle muscular dystrophy; anoctamin-5-related lgmd r12; anoctamin-5-related limb-girdle muscular dystrophy r12; autosomal recessive limb girdle muscular dystrophy type 2l; autosomal recessive limb-girdle muscular dystrophy caused by mutation in ano5; lgmd type 2l
Patient organizations
- LGMD2L FoundationAutosomal recessive limb-girdle muscular dystrophy type 2L · United States
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2L · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2L · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2L.
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