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Start free with EleplanAutosomal recessive dopa-responsive dystonia
ORPHA:101150Disease
Also called Autosomal recessive Segawa syndrome · DYT5b · Tyrosine hydroxylase deficiency · Tyrosine hydroxylase-deficient dopa-responsive dystonia
What it is
A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- 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%
28- Abnormality of extrapyramidal motor function
- Ataxia
- Babinski sign
- Bradykinesia
- Brisk reflexes
- Constipation
- Decreased CSF homovanillic acid concentration
- Delayed speech and language development
- Excessive salivation
- Feeding difficulties
- Focal dystonia
- Gait ataxia
- Hypokinesia
- Hypotonia
- Irritability
- Lethargy
- Limb dystonia
- Lower limb hyperreflexia
- Motor delay
- Myoclonus
- Night sweats
- Oculogyric crisis
- Parkinsonism
- Pes cavus
- Postural tremor
- Ptosis
- Rigidity
- Talipes equinovarus
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.
Genes
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.
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