Living with Griscelli syndrome type 1
A rare inherited condition that affects hair and skin color, the brain, and the nerves.
Understanding Griscelli syndrome type 1
People may have silvery hair with a gray shine, lighter skin than usual, and problems with movement, thinking, or other brain functions. It usually begins in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in overall development
- Intellectual disability
- Movement problems and poor coordination (ataxia)
- Low muscle tone (hypotonia)
- Quick eye movements (nystagmus) and double vision
- Light eye color
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, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in MYO5A 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
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease 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
Changes in the MYO5A gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: griscelli syndrome with neurologic impairment; griscelli syndrome with neurological impairment; griscelli syndrome, cutaneous and neurologic type; griscelli syndrome, cutaneous and neurological type; griscelli-pruniéras syndrome type 1; gs1
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Griscelli syndrome type 1.
Explore research for Griscelli syndrome type 1
Explore actively recruiting Griscelli syndrome type 1 studies with HealthSpark.
Find actively recruiting studies for Griscelli syndrome type 1 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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