Progressive demyelinating neuropathy with bilateral striatal necrosis
- Synonyms
- BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY; Striatal necrosis, bilateral, and progressive polyneuropathy; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (40 available)
Clinical features
Help- Abnormality of limbs
- Abnormal foot morphology
Abnormal foot morphology
- MedGen UID: 1762829
- Concept ID: C5399834
- Finding: Anatomical Abnormality
Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Abnormal foot morphology
- Abnormality of the musculoskeletal system
- Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs
- MedGen UID: 395285
- Concept ID: C1859523
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Difficulty walking
Difficulty walking
- MedGen UID: 86319
- Concept ID: C0311394
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Contractures of the joints of the lower limbs
- Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Increased CSF lactate
Increased CSF lactate
- MedGen UID: 257904
- Concept ID: C1167918
- Finding: Finding
Abnormality of the nervous system
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Paralysis
Paralysis
- MedGen UID: 105510
- Concept ID: C0522224
- Finding: Finding
Abnormality of the nervous system
- Peripheral axonal neuropathy
Peripheral axonal neuropathy
- MedGen UID: 266071
- Concept ID: C1263857
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Polyneuropathy
Polyneuropathy
- MedGen UID: 57502
- Concept ID: C0152025
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hyporeflexia
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.