Living with Dopa-responsive dystonia due to sepiapterin reductase deficiency
An inherited condition with movement problems such as dystonia, delayed motor skills, and episodes in which the eyes roll upward.
Understanding Dopa-responsive dystonia due to sepiapterin reductase deficiency
Dystonia means sustained, involuntary muscle contractions. People may also have stiffness, tremors, balance and coordination problems, and jerking movements. Some have episodes called oculogyric crises, with the eyes rotating, irritability, pain, and muscle spasms. Movement problems are often worse late in the day. Most have delays in sitting and crawling and are not able to walk without help. Signs begin in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Involuntary muscle tightening (dystonia)
- Eye-rolling episodes (oculogyric crisis)
- Delays in motor skills
- Intellectual disability
- Trouble sleeping or sleepiness
- Muscle stiffness and weakness
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 SPR 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 Pediatric Neurotransmitter Disease Association 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
GARD says changes in the SPR gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive sepiapterin reductase-deficient drd; dopa responsive dystonia due to sepiapterin reductase deficiency; drd due to srd; dyt-spr; sepiapterin reductase deficiency; spr deficiency
Patient organizations
- Pediatric Neurotransmitter Disease AssociationDopa-responsive dystonia due to sepiapterin reductase deficiency · United States
- Dystonia Medical Research FoundationDystonia · United States
You are more than your diagnosis
Perspectives from people navigating life with Dopa-responsive dystonia due to sepiapterin reductase deficiency.
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