LEBER OPTIC ATROPHY AND DYSTONIA

General Information (adopted from Orphanet):

Synonyms, Signs: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA
DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES
MARSDEN SYNDROME
LDYT
Number of Symptoms 23
OrphanetNr:
OMIM Id: 500001
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001112) Leber optic atrophy 9 / 7739
2
(HPO:0000496) Abnormality of eye movement 79 / 7739
3
(HPO:0000572) Visual loss 272 / 7739
4
(HPO:0000648) Optic atrophy 238 / 7739
5
(HPO:0002493) Upper motor neuron dysfunction 5 / 7739
6
(HPO:0001260) Dysarthria 329 / 7739
7
(HPO:0009830) Peripheral neuropathy 206 / 7739
8
(HPO:0002015) Dysphagia 301 / 7739
9
(HPO:0002305) Athetosis 31 / 7739
10
(HPO:0002067) Bradykinesia 62 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0001257) Spasticity 251 / 7739
13
(HPO:0000726) Dementia 131 / 7739
14
(HPO:0001332) Dystonia 197 / 7739
15
(HPO:0002490) Increased CSF lactate 28 / 7739
16
(HPO:0002650) Scoliosis 705 / 7739
17
(HPO:0002151) Increased serum lactate 92 / 7739
18
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
19
(OMIM) Bulbar dysfunction 4 / 7739
20
(OMIM) Normal cognition 7 / 7739
21
(OMIM) Bilateral striatal lucencies on imaging 1 / 7739
22
(OMIM) Increased serum and CSF lactate 7 / 7739
23
(OMIM) Decreased mitochondrial complex I activity 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Marsden et al. (1986) reported a unique disorder in 7 members of 2 families in whom dystonia was variably associated with subacute visual loss or asymptomatic optic atrophy, and striking bilateral symmetric lucencies, especially in the putamen, were ...
Molecular genetics OMIM The family reported by Novotny et al. (1986) was found by Jun et al. (1994) to harbor a Native American mtDNA and was heteroplasmic for a MTND6*LDYT14459A mutation (516006.0002) arising on the Native American haplogroup D mtDNA background. ...