Living with Neuronal ceroid lipofuscinosis 10
A type of NCL (CLN10) that usually starts soon after birth, with muscle stiffness, breathing problems, and seizures.
Understanding Neuronal ceroid lipofuscinosis 10
Signs usually appear soon after birth and can include muscle stiffness, breathing problems, and seizures lasting several minutes. Infants have a small brain and head and trouble controlling movements. In some people, symptoms start later in infancy, childhood, or adulthood, and are more gradual, such as poor coordination, loss of speech and vision, and memory and thinking problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Seizures
- Muscle stiffness (spasticity)
- Poor coordination (ataxia)
- Vision loss from retina changes
- Loss of skills and memory
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 CTSD 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 and 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); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: BDSRA Foundation, 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 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
CLN10 disease is caused by changes in the CTSD gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cathepsin d deficiency; cathepsin d deficient neuronal ceroid lipofuscinosis; ceroid lipofuscinosis, neuronal, type 10; cln10; cln10 disease; cln10-ncl
Patient organizations
- BDSRA FoundationNeuronal ceroid lipofuscinosis 10 · United States
- Children's Brain Disease FoundationNeuronal ceroid lipofuscinosis 10 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Neuronal ceroid lipofuscinosis 10.
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