Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanDopa-responsive dystonia due to sepiapterin reductase deficiency
ORPHA:70594Disease
Also called Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD · SPR deficiency · Sepiapterin reductase deficiency
What it is
Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
21- Abnormality of the nose
- Atypical behavior
- Axial hypotonia
- Bradykinesia
- Cognitive impairment
- Delayed speech and language development
- Drowsiness
- Dystonia
- Hyperhidrosis
- Hyperreflexia
- Hypomimic face
- Intellectual disability
- Limb hypertonia
- Motor delay
- Muscle weakness
- Oculogyric crisis
- Ptosis
- Rigidity
- Sleep abnormality
- Temperature instability
- Tremor
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.