Living with Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
A rare genetic condition with muscle stiffness that slowly worsens, mainly in the legs, and changes in the brain's white matter.
Understanding Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
It causes stiffness that slowly gets worse, mostly in the legs. Most people have developmental delay, moderate to severe intellectual disability, and white matter changes in infancy. Seizures, breathing episodes needing support, tight joints, and eye problems can occur. Some have normal early development until later childhood, followed by loss of skills. Some have only spastic paraplegia (leg stiffness).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Leg stiffness (spastic paraplegia)
- Delayed development
- Loss of skills (developmental regression)
- Seizures
- Small head (microcephaly)
- Vision problems
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 HPDL are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 United Cerebral Palsy
- 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 lists changes in the HPDL gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cerebral palsy, spastic quadriplegic, 1; cerebral palsy, spastic quadriplegic, type 1; infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome; nedswma
Patient organizations
- United Cerebral PalsyNeurodevelopmental disorder with progressive spasticity and brain white matter abnormalities · United States
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Perspectives from people navigating life with Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.
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