progressive demyelinating neuropathy with bilateral striatal necrosis
Findings
No curated finding names progressive demyelinating neuropathy with bilateral striatal necrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.
Definition from the Mondo Disease Ontology (MONDO:0013382), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Distal muscle weaknessHPOHP:0002460
- 4 of 4 reported patients
- Gait disturbanceHPOHP:0001288
- 4 of 4 reported patients
- Increased CSF lactateHPOHP:0002490
- 3 of 3 reported patients
- Lower-limb joint contractureHPOHP:0005750
- 2 of 4 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 2 of 4 reported patients
- Distal sensory impairmentHPOHP:0002936
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC25A19HGNC:14409
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: progressive demyelinating neuropathy with bilateral striatal necrosis
- Also called
- thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)