Living with Autosomal recessive limb-girdle muscular dystrophy type R18
An inherited muscle condition with weakness, learning difficulty, and movement problems, starting in infancy or childhood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type R18
Weakness near the center of the body slowly gets worse and can reduce walking. People also have muscle aches and tiredness. Other features include unusual movements in infancy, trouble with trunk balance, and intellectual disability. Scoliosis and hip problems are possible. Eye features and seizures are less common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in upper arm and upper leg muscles
- Muscle aches (myalgia)
- Waddling or unusual walk
- Cataracts (clouding of the lens)
- Delayed or absent speech
- Enlarged liver (hepatomegaly)
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 TRAPPC11 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 TRAPPC11 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 2s; autosomal recessive limb-girdle muscular dystrophy caused by mutation in trappc11; autosomal recessive limb-girdle muscular dystrophy type 2s; lgmd type 2s; lgmd2s; lgmdr18
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type R18 · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type R18 · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type R18.
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