Overview
CLN12 disease is an extremely rare inherited neurological condition that belongs to a group of disorders called neuronal ceroid lipofuscinoses (NCLs), sometimes referred to as Batten disease. It is also known as CLN12-related neuronal ceroid lipofuscinosis or ATP13A2-related NCL. In this disease, the body cannot properly break down and recycle certain fatty substances (lipopigments) inside cells, especially nerve cells in the brain. Over time, these substances build up and damage the brain and nervous system. CLN12 disease typically begins in childhood or the juvenile years. Early symptoms often include problems with movement, such as stiffness, difficulty walking, and involuntary muscle contractions (dystonia). Children may also experience seizures, progressive loss of intellectual abilities, speech difficulties, and vision problems. As the disease progresses, affected individuals may lose previously acquired skills, including the ability to walk, talk, and care for themselves. There is currently no cure for CLN12 disease. Treatment focuses on managing symptoms and improving quality of life. Anti-seizure medications can help control epilepsy, and physical therapy may help maintain mobility for as long as possible. Supportive care from a team of specialists is essential. Research into potential therapies, including gene therapy and other experimental approaches, is ongoing but still in early stages for this particular form of NCL.
Also known as:
Key symptoms:
Muscle stiffness and rigidityInvoluntary muscle contractions (dystonia)Difficulty walking and balance problemsSeizures or epilepsyProgressive intellectual declineLoss of speech and communication skillsVision lossTremorsSlow voluntary movementsDifficulty swallowingLoss of previously learned skillsBehavioral changesAbnormal eye movements
Clinical phenotype terms (18)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for CLN12 disease.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to CLN12 disease.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What stage of CLN12 disease is my child in, and what changes should we expect over the coming months and years?,What is the best plan for managing seizures, and what should we do if a seizure lasts longer than usual?,Are there any clinical trials or experimental treatments available for CLN12 disease?,What therapies (physical, occupational, speech) should we start now to help maintain my child's abilities?,How should we plan for nutritional needs as swallowing becomes more difficult?,Can you connect us with a palliative care team and family support services?,Should other family members or future pregnancies be tested for the ATP13A2 gene mutation?
Common questions about CLN12 disease
What is CLN12 disease?
CLN12 disease is an extremely rare inherited neurological condition that belongs to a group of disorders called neuronal ceroid lipofuscinoses (NCLs), sometimes referred to as Batten disease. It is also known as CLN12-related neuronal ceroid lipofuscinosis or ATP13A2-related NCL. In this disease, the body cannot properly break down and recycle certain fatty substances (lipopigments) inside cells, especially nerve cells in the brain. Over time, these substances build up and damage the brain and nervous system. CLN12 disease typically begins in childhood or the juvenile years. Early symptoms of
How is CLN12 disease inherited?
CLN12 disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat CLN12 disease?
1 specialists and care centers treating CLN12 disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.