Living with LAMA5-related multisystemic syndrome
A rare genetic condition starting in infancy that affects the skin, eyes, muscles, joints, and several organs.
Understanding LAMA5-related multisystemic syndrome
Features include slow wound healing with thin scars, dry, brittle hair, night blindness from retinal rod damage, muscle weakness, pain, and cramps, joint problems, a loose kidney that drops (floating kidney), poor nutrient absorption, and low thyroid function. It has been reported to be more severe in women than in men.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Slow wound healing and thin scars
- Dry, brittle hair
- Night blindness
- Muscle weakness, pain, and cramps
- Joint looseness and osteoarthritis
- Low thyroid function
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 autoimmune and inflammatory disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in LAMA5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Changes in the LAMA5 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: laminin subunit alpha 5-related multisystemic syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with LAMA5-related multisystemic syndrome.
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