Living with Neuroectodermal melanolysosomal disease
A rare genetic nervous system condition with silvery hair, lighter skin patches, and developmental and learning problems.
Understanding Neuroectodermal melanolysosomal disease
It involves silvery hair, differences in pigment cells (melanocytes) and their pigment packages (melanosomes), and abnormal clumps inside certain cells. The central nervous system is deeply affected. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Silvery or lighter hair
- Patchy lighter skin
- Delayed development
- Intellectual disability
- Seizures
- Tremor
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 hormone 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.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Epilepsy 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 Epilepsy Foundation 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
GARD lists changes in the MYO5A gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: elejalde disease; elejalde neuroectodermal melanolysosomal syndrome
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Neuroectodermal melanolysosomal disease.
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