Living with Striatonigral degeneration, childhood-onset
A rare inherited brain condition with sudden loss of movement skills, muscle spasms, and swallowing and speech trouble.
Understanding Striatonigral degeneration, childhood-onset
It starts suddenly with movement skills getting worse and a loss of skills a child had gained. People may have dystonia (twisting muscle spasms), trouble swallowing and speaking, and eventually loss of speech and walking. Brain MRI shows changes mostly in the striatum, a movement-control area. Signs often begin in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of developmental skills
- Twisting muscle spasms (dystonia)
- Trouble swallowing and drooling
- Delayed speech
- Unsteady walk and loss of walking
- Muscle tone that is too high or too low
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 and genetic specialists.
- 3Consider genetic testing
Changes in VAC14 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
Dystonia Medical Research Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Dystonia Medical Research 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 Dystonia Medical Research Foundation
- 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 VAC14 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: childhood-onset basal ganglia degeneration syndrome; lenk ploski syndrome; lenk-ploski syndrome; sndc; striatonigral degeneration, childhood-onset; sndc
Patient organizations
- Dystonia Medical Research FoundationDystonia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Striatonigral degeneration, childhood-onset.
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