Necrotizing encephalomyelopathy, subacute, of Leigh, adult

General Information (adopted from Orphanet):

Synonyms, Signs: LEIGH syndrome, adult
Number of Symptoms 45
OrphanetNr:
OMIM Id: 161700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Childhood
Adolescent
Adult
24731534 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Leigh syndrome
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Late-onset Leigh syndrome, i.e. presentation in late childhood, adolescence or adulthood, is considered rare (PMID:24731534). The first familial subacute necrotizing encephalomyelopathy of the adult form (adult Leigh syndrome) is mentioned in Kalimo et al. (1979). Adult patients with Leigh syndrome present with almost no neurologic abnormalities, or with typical features of Leigh syndrome or mitochondrial disorder (PMID:18805359).

Symptom Information: Sort by abundance 

1
 (HPO:0002017) Nausea and vomiting 10208283 IBIS 134 / 7739
2
 (HPO:0000648) Optic atrophy Frequent [IBIS] 230781 IBIS 238 / 7739
3
 (HPO:0000639) Nystagmus 7715756 IBIS 555 / 7739
4
 (HPO:0000602) Ophthalmoplegia 7715756 IBIS 56 / 7739
5
 (HPO:0007641) Dyschromatopsia Frequent [IBIS] 230781 IBIS 19 / 7739
6
 (HPO:0000603) Central scotoma Frequent [IBIS] 230781 IBIS 18 / 7739
7
 (HPO:0000618) Blindness 10208283 IBIS 124 / 7739
8
 (HPO:0000572) Visual loss Frequent [IBIS] 3419377 IBIS 272 / 7739
9
 (HPO:0000508) Ptosis 21819970 IBIS 459 / 7739
10
 (HPO:0001488) Bilateral ptosis 21819970 IBIS 42 / 7739
11
 (HPO:0001658) Myocardial infarction 22273117 IBIS 30 / 7739
12
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain 22273117 IBIS 34 / 7739
13
 (HPO:0008347) Decreased activity of mitochondrial complex IV 22273117 IBIS 31 / 7739
14
 (HPO:0001903) Anemia 10208283 IBIS 289 / 7739
15
 (HPO:0001336) Myoclonus 7715756 IBIS 115 / 7739
16
 (HPO:0001324) Muscle weakness 10208283 IBIS 859 / 7739
17
 (HPO:0006824) Cranial nerve paralysis 7715756 IBIS 81 / 7739
18
 (HPO:0001298) Encephalopathy 10208283 IBIS 72 / 7739
19
 (HPO:0006976) Necrotizing encephalopathy 22273117 IBIS 2 / 7739
20
 (HPO:0003474) Sensory impairment 3419377 IBIS 54 / 7739
21
 (HPO:0007108) Demyelinating peripheral neuropathy 7715756 IBIS 8 / 7739
22
 (HPO:0012657) Abnormal brain positron emission tomography 22273117 IBIS 1 / 7739
23
 (HPO:0001251) Ataxia Frequent [IBIS] 230781 IBIS 413 / 7739
24
 (HPO:0002321) Vertigo 10208283 IBIS 58 / 7739
25
 (HPO:0002273) Tetraparesis 3419377 IBIS 15 / 7739
26
 (HPO:0012671) Abulia 3419377 IBIS 1 / 7739
27
 (HPO:0000726) Dementia Occasional [IBIS] 230781 IBIS 131 / 7739
28
 (HPO:0001268) Mental deterioration 22273117 IBIS 88 / 7739
29
 (HPO:0001259) Coma 3419377 IBIS 65 / 7739
30
 (HPO:0002315) Headache 3419377 IBIS 175 / 7739
31
 (HPO:0002197) Generalized seizures 7715756 IBIS 30 / 7739
32
 (HPO:0002123) Generalized myoclonic seizures 20019223 IBIS 62 / 7739
33
 (HPO:0002069) Generalized tonic-clonic seizures Occasional [IBIS] 230781 IBIS 96 / 7739
34
 (HPO:0000975) Hyperhidrosis 3419377 IBIS 64 / 7739
35
 (HPO:0100502) Vitamin B12 deficiency 22273117 IBIS 4 / 7739
36
 (HPO:0005957) Breathing dysregulation 7715756 IBIS 6 / 7739
37
 (HPO:0000365) Hearing impairment 10208283 IBIS 539 / 7739
38
 (HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue 22273117 IBIS 20 / 7739
39
 (MedDRA:10049095) Decerebration 3419377 IBIS 1 / 7739
40
 (MedDRA:10021079) Hypopnoea 7715756 IBIS 1 / 7739
41
 (MedDRA:10028836) Neck pain 3419377 IBIS 3 / 7739
42
 (OMIM) Cranial nerve dysfunction 7715756 IBIS 2 / 7739
43
 (OMIM) Encephalomyelopathy Very frequent [IBIS] 230781 IBIS 2 / 7739
44
 (OMIM) MRI shows T2-weighted signals in the basal ganglia 22273117 IBIS 4 / 7739
45
 (OMIM) Mild dementia 230781 IBIS 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kalimo et al. (1979) described adult Leigh disease in a mother and 2 sons. The disease started during the second decade with bilateral optic atrophy, central scotoma, and colorblindness. This was followed by a quiescent period until about ...