Living with ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
A rare inherited nerve condition that starts in childhood with worsening balance, movement, speech, and thinking problems.
Understanding ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
It is a type of neuronal ceroid lipofuscinosis, in which waste material builds up in nerve cells. Features include ataxia (balance and coordination trouble), trouble speaking and swallowing, muscle twitches, stiffness, slow movements, and intellectual decline.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Balance problems (postural instability)
- Slow movements (bradykinesia)
- Stiffness (rigidity) and tremor
- Muscle twitches (myoclonus) and dystonia
- Cognitive impairment
- Parkinsonism that responds to dopamine medicine
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 seizure and epilepsy 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
BDSRA Foundation, Epilepsy 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); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: BDSRA Foundation, Epilepsy 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 BDSRA 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 says 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: atp13a2-related juvenile neuronal ceroid lipofuscinosis; cln12 disease; juvenile parkinsonism-neuronal ceroid lipofuscinosis; juvenile parkinsonism, neuronal ceroid lipofuscinosis; parkinsonism due to atp13a2 deficiency
Patient organizations
- BDSRA FoundationATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis · United States
- Children's Brain Disease FoundationATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis · United States
- Epilepsy FoundationEpilepsy · United States
- Parkinson & Movement Disorder AllianceParkinsonism · United States
You are more than your diagnosis
Perspectives from people navigating life with ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis.
Explore research for ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
Explore actively recruiting ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis studies with HealthSpark.
Find actively recruiting studies for ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.