Living with Autosomal recessive limb-girdle muscular dystrophy type 2G
A mild inherited muscle condition with slowly worsening weakness in the arms and legs.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2G
Onset ranges from infancy to adolescence. Muscles in the upper arms and thighs become weaker and smaller over time. Mild winged shoulder blades and enlarged calves can occur. There is no breathing or heart involvement.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. The summary describes these features:
- Slowly worsening weakness in upper arms and legs
- Muscle wasting
- Mild winged shoulder blades
- Enlarged calf muscles
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 TCAP 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 TCAP 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 2g; autosomal recessive limb-girdle muscular dystrophy caused by mutation in tcap; lgmd due to telethonin deficiency; lgmd type 2g; lgmd2g; lgmdr7
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2G · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2G · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2G.
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