Living with Kufor-Rakeb syndrome
A rare genetic nerve condition with Parkinson-like symptoms, muscle stiffness, and memory and thinking changes starting in childhood or the teens.
Understanding Kufor-Rakeb syndrome
Parkinsonism means stiffness, slow movement, and tremor. People also have dystonia (muscle spasms), a type of eye movement problem called supranuclear palsy, and cognitive impairment. It starts in childhood or the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Parkinson-like stiffness and slow movement
- Dementia and confusion
- Muscle jerks (myoclonus)
- Walking difficulty
- Reduced facial expression
- Loss of speech
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 and genetic specialists.
- 3Consider genetic testing
Changes in ATP13A2 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
Parkinson's Foundation and Parkinson & Movement Disorder Alliance 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)
- Expert care
- Expert lists: Parkinson's Foundation, Parkinson & Movement Disorder Alliance
- 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 Michael J. Fox Foundation for Parkinson's Research 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
Changes in the ATP13A2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive juvenile onset parkinson disease 9; autosomal recessive parkinson disease 9; krs; kufor rakeb syndrome; park9; park9 - parkinson disease 9
Patient organizations
- Michael J. Fox Foundation for Parkinson's ResearchKufor-Rakeb syndrome · United States
- NBIA Disorders AssociationKufor-Rakeb syndrome · United States
- Parkinson's FoundationKufor-Rakeb syndrome · United States
- NBIAcureKufor-Rakeb syndrome · United States
- Parkinson & Movement Disorder AllianceParkinsonism · United States
You are more than your diagnosis
Perspectives from people navigating life with Kufor-Rakeb syndrome.
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