Living with Spastic ataxia-dysarthria due to glutaminase deficiency
A rare genetic condition starting in childhood with developmental delay and worsening stiffness and poor coordination.
Understanding Spastic ataxia-dysarthria due to glutaminase deficiency
In childhood, people have global developmental delay and a stiff, unsteady walk that worsens over time and can lead to loss of independent walking. Blood levels of glutamine are high. Optic nerve damage, tremor and slurred speech have also been reported. Brain imaging may show a shrunken cerebellum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Poor coordination that worsens over time
- Delayed walking and motor skills
- Delayed speech
- Seizures with fever
- Shrinking of the cerebellum
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 GLS 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
National Ataxia 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: National Ataxia 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 National Ataxia 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
GARD lists changes in the GLS gene, which cause glutaminase deficiency. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: spastic ataxia, dysarthria due to glutaminase deficiency
Patient organizations
- National Ataxia FoundationAtaxia · 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 Spastic ataxia-dysarthria due to glutaminase deficiency.
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