Living with Autosomal recessive limb-girdle muscular dystrophy type 2Y
An inherited muscle condition with slowly worsening weakness, stiff joints, and a stiff spine, starting in childhood or the teens.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2Y
Weakness and wasting affect muscles both near and far from the center of the body. People can also have stiff finger joints, a rigid spine, reduced lung function, and mild heart muscle disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness, including in the hands and feet
- Trouble climbing stairs
- Stiff or bent finger joints
- Tight ankle joints
- Rigid spine
- Extra heartbeats (premature ventricular contractions)
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 TOR1AIP1 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
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: 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 The Speak Foundation
- 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 TOR1AIP1 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 2y; autosomal recessive limb-girdle muscular dystrophy caused by mutation in tor1aip1; autosomal recessive muscular dystrophy due to lap1b (lamin-associated protein 1b) deficiency; autosomal recessive muscular dystrophy due to lap1b deficiency; autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency; lgmd type 2y
Patient organizations
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2Y · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2Y.
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