Living with Spongy degeneration of central nervous system
An inherited brain condition (Canavan disease) that affects nerve signals, development, and muscle tone.
Understanding Spongy degeneration of central nervous system
It belongs to a group called leukodystrophies, which affect the myelin sheath, the covering that protects nerves. In the most common form, babies seem typical at first. Around 3 to 5 months, development problems appear, such as not learning to sit up or control the head. A milder juvenile form causes mild speech and movement delays starting in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Low muscle tone (hypotonia)
- Unusually large head (macrocephaly)
- Feeding and swallowing difficulties
- Vision and hearing problems
- 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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ASPA 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
Canavan Foundation, Epilepsy Foundation and United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Canavan Foundation, Epilepsy Foundation, United Leukodystrophy 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 Canavan 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
Changes in the ASPA gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: acy2 deficiency; aminoacylase 2 deficiency; asp deficiency; aspa deficiency; aspartoacylase deficiency; canavan disease
Patient organizations
- Canavan FoundationSpongy degeneration of central nervous system · United States
- Canavan Research FoundationSpongy degeneration of central nervous system · United States
- Cure Canavan FundSpongy degeneration of central nervous system · United States
- National Tay-Sachs and Allied Diseases AssociationSpongy degeneration of central nervous system · United States
- Epilepsy FoundationEpilepsy · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Spongy degeneration of central nervous system.
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