Living with X-linked neurodegenerative syndrome, Hamel type
A rare X-linked condition in which a few months of typical development are followed by gradual loss of vision and nervous system problems.
Understanding X-linked neurodegenerative syndrome, Hamel type
GARD describes gradual loss of vision, stiff limbs (spastic tetraplegia), convulsions, small head size, and poor weight gain. Signs begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of vision
- Severe intellectual disability
- Global developmental delay
- Muscle stiffness (spasticity)
- Seizures
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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
GARD says changes in genes (variants) cause this condition and it follows X-linked inheritance. It doesn't name a gene.
Also known as: x-linked neurodegenerative syndrome hamel type
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 X-linked neurodegenerative syndrome, Hamel type.
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