STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL

General Information (adopted from Orphanet):

Synonyms, Signs: BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL
INFANTILE BILATERAL STRIATAL NECROSIS, MITOCHONDRIAL
Number of Symptoms 15
OrphanetNr:
OMIM Id: 500003
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0002359) Frequent falls 24 / 7739
4
 (HPO:0003487) Babinski sign 179 / 7739
5
 (HPO:0001270) Motor delay 322 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0007098) Paroxysmal choreoathetosis 6 / 7739
8
 (HPO:0002355) Difficulty walking 61 / 7739
9
 (HPO:0001324) Muscle weakness 859 / 7739
10
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
11
 (HPO:0010547) Muscle flaccidity 466 / 7739
12
 (HPO:0001252) Muscular hypotonia 990 / 7739
13
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
14
 (OMIM) Muscle biopsy shows ragged red fibers 4 / 7739
15
 (OMIM) Lesions in the caudate and putamen 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De Meirleir et al. (1995) reported a 2.5-year-old boy who presented with developmental delay. He was globally hypotonic and unable to walk without falling, and had choreoathetotic movements and extensor plantar responses. MRI showed lesions in the caudate ...
Molecular genetics OMIM In a boy with bilateral striatal necrosis, De Meirleir et al. (1995) identified a mutation in the MTATP6 gene (516060.0006). The patient had less than 3% normal mtDNA in fibroblasts and his unaffected mother had 15% normal mtDNA. ...