Progressive demyelinating neuropathy with bilateral striatal necrosis

General Information (adopted from Orphanet):

Synonyms, Signs: STRIATAL NECROSIS, BILATERAL, AND PROGRESSIVE POLYNEUROPATHY
BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY
THMD4
Number of Symptoms 22
OrphanetNr: 217396
OMIM Id: 613710
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
2
 (HPO:0002490) Increased CSF lactate 28 / 7739
3
 (HPO:0001271) Polyneuropathy 56 / 7739
4
 (HPO:0002355) Difficulty walking 61 / 7739
5
 (HPO:0003470) Paralysis 11 / 7739
6
 (HPO:0001265) Hyporeflexia 208 / 7739
7
 (HPO:0001254) Lethargy 104 / 7739
8
 (HPO:0001760) Abnormality of the foot 96 / 7739
9
 (HPO:0001762) Talipes equinovarus 309 / 7739
10
 (HPO:0005750) Contractures of the joints of the lower limbs 5 / 7739
11
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
12
 (HPO:0001324) Muscle weakness 859 / 7739
13
 (OMIM) Lesions in the caudate and putamen seen on MRI 1 / 7739
14
 (OMIM) Difficulty walking and running 2 / 7739
15
 (OMIM) Forefoot adduction 1 / 7739
16
 (OMIM) Forefoot supination 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Increased CSF lactate during acute episodes 1 / 7739
19
 (OMIM) Distal muscle weakness due to neuropathy 1 / 7739
20
 (OMIM) Encephalopathic attacks, episodic, associated with infection 2 / 7739
21
 (OMIM) Distal joint contractures, lower limbs 1 / 7739
22
 (OMIM) Distal muscle atrophy due to neuropathy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Thiamine metabolism dysfunction syndrome-4 is an autosomal recessive metabolic disorder characterized by childhood onset of episodic encephalopathy, often associated with a febrile illness, and causing transient neurologic dysfunction. Most patients recover fully, but some may have mild residual ...
Clinical Description OMIM Spiegel et al. (2009) reported a consanguineous Arab Muslim family in which 4 sibs had a disorder characterized by acute encephalopathic episodes associated with striatal necrosis on brain imaging as well as a progressive chronic polyneuropathy. All patients ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene analysis of a consanguineous Arab Muslim family with bilateral striatal necrosis and progressive polyneuropathy, Spiegel et al. (2009) identified a homozygous mutation in the SLC25A19 gene (G125S; 606521.0002).