Living with Autosomal recessive limb-girdle muscular dystrophy type 2T
An inherited muscle condition with low muscle tone, small head size, and seizures, starting from birth to early childhood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2T
People have low muscle tone, a small head, mild muscle weakness that delays walking and makes stairs hard, mild intellectual disability, and epilepsy. Some also have cataracts, shaky eye movements, heart muscle disease, or breathing problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Trouble climbing stairs
- Global developmental delay
- Intellectual disability
- Seizures
- Small head size (less common)
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 GMPPB 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 GMPPB 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 2t; autosomal recessive limb-girdle muscular dystrophy caused by mutation in gmppb; gmppb autosomal recessive limb-girdle muscular dystrophy; gmppb-related lgmd r19; gmppb-related limb-girdle muscular dystrophy r19; lgmd type 2t
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2T · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2T · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2T.
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