Living with Progressive demyelinating neuropathy with bilateral striatal necrosis
A rare genetic condition of thiamine (vitamin B1) handling that causes episodes of paralysis and nerve and muscle weakness.
Understanding Progressive demyelinating neuropathy with bilateral striatal necrosis
It causes repeated episodes of floppy paralysis and brain problems (encephalopathy). It also causes slowly worsening nerve damage with muscle weakness in the arms and legs. Other features include absent reflexes, tight joints (contractures), and foot deformities.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Walking difficulty (gait disturbance)
- Tight joints in the legs (contractures)
- Muscle wasting (skeletal muscle atrophy)
- Weakness in the hands and feet (distal muscle weakness)
- Foot deformities, such as club feet
- Reduced reflexes
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 SLC25A19 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
This condition is caused by changes in the SLC25A19 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: bilateral striatal degeneration and progressive polyneuropathy; progressive polyneuropathy with bilateral striatal necrosis; thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type); thmd4
Patient organizations
Rare-disease groups that can help
- 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 Progressive demyelinating neuropathy with bilateral striatal necrosis.
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