Autosomal recessive progressive external ophthalmoplegia

General Information (adopted from Orphanet):

Synonyms, Signs: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE
PEOB
arPEO
Number of Symptoms 63
OrphanetNr: 254886
OMIM Id: 258450
ICD-10: H49.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple mitochondrial DNA deletion syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0007641) Dyschromatopsia rare [HPO:skoehler] 19 / 7739
3
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
4
 (HPO:0000508) Ptosis 459 / 7739
5
 (HPO:0000590) Progressive external ophthalmoplegia 23 / 7739
6
 (HPO:0000505) Visual impairment rare [HPO:skoehler] 297 / 7739
7
 (HPO:0002403) Positive Romberg sign 11 / 7739
8
 (HPO:0002063) Rigidity 92 / 7739
9
 (HPO:0006886) Impaired distal vibration sensation 8 / 7739
10
 (HPO:0001284) Areflexia 198 / 7739
11
 (HPO:0001260) Dysarthria 329 / 7739
12
 (HPO:0003376) Steppage gait 41 / 7739
13
 (HPO:0001618) Dysphonia 28 / 7739
14
 (HPO:0001288) Gait disturbance 318 / 7739
15
 (HPO:0003434) Sensory ataxic neuropathy 4 / 7739
16
 (HPO:0002922) Increased CSF protein 27 / 7739
17
 (HPO:0000716) Depression 99 / 7739
18
 (HPO:0006858) Impaired distal proprioception 4 / 7739
19
 (HPO:0000712) Emotional lability 44 / 7739
20
 (HPO:0003390) Sensory axonal neuropathy 26 / 7739
21
 (HPO:0001265) Hyporeflexia 208 / 7739
22
 (HPO:0002015) Dysphagia 301 / 7739
23
 (HPO:0002067) Bradykinesia 62 / 7739
24
 (HPO:0002070) Limb ataxia 41 / 7739
25
 (HPO:0002066) Gait ataxia 327 / 7739
26
 (HPO:0001300) Parkinsonism 75 / 7739
27
 (HPO:0001761) Pes cavus 225 / 7739
28
 (HPO:0001634) Mitral valve prolapse 69 / 7739
29
 (HPO:0001637) Abnormality of the myocardium 76 / 7739
30
 (HPO:0001653) Mitral regurgitation 64 / 7739
31
 (HPO:0001638) Cardiomyopathy Occasional [HPO] 192 / 7739
32
 (HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
33
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
34
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
35
 (HPO:0003548) Subsarcolemmal accumulations of abnormally shaped mitochondria 9 / 7739
36
 (HPO:0003689) Multiple mitochondrial DNA deletions 12 / 7739
37
 (HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue 20 / 7739
38
 (HPO:0003546) Exercise intolerance 62 / 7739
39
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
40
 (HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
41
 (HPO:0003701) Proximal muscle weakness 105 / 7739
42
 (HPO:0003713) Muscle fiber necrosis 8 / 7739
43
 (HPO:0003737) Mitochondrial myopathy 18 / 7739
44
 (HPO:0002460) Distal muscle weakness 122 / 7739
45
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
46
 (HPO:0003700) Generalized amyotrophy 39 / 7739
47
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
48
 (OMIM) Limb muscle weakness, upper and lower 3 / 7739
49
 (OMIM) Multiple mitochondrial DNA (mtDNA) deletions seen on muscle biopsy 3 / 7739
50
 (OMIM) Fibrillations 3 / 7739
51
 (OMIM) Decreased activity of cytochrome c oxidase seen on muscle biopsy 3 / 7739
52
 (OMIM) Necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy 1 / 7739
53
 (OMIM) Increased variation in fiber size seen on muscle biopsy 1 / 7739
54
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
55
 (OMIM) Decreased sensory nerve action potentials 3 / 7739
56
 (OMIM) Mitochondrial myopathy, severe 1 / 7739
57
 (HPO:0003812) Phenotypic variability 129 / 7739
58
 (HPO:0003581) Adult onset Common [HPO] 117 / 7739
59
 (OMIM) Subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy 1 / 7739
60
 (OMIM) Myotonic discharges 1 / 7739
61
 (OMIM) [DEL]Ragged red fibers seen on muscle biopsy 10 / 7739
62
 (MedDRA:10057689) Acquired claw toe 4 / 7739
63
 (OMIM) Distal sensory loss of vibration and proprioception 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may ...
Clinical Description OMIM Bohlega et al. (1996) reported 6 patients in 2 unrelated families with autosomal recessive ophthalmoplegia and cardiomyopathy. The families derived from the eastern Arabian peninsula and the patients presented with childhood-onset progressive external ophthalmoplegia, mild facial and proximal ...
Molecular genetics OMIM In affected members of 2 unrelated Belgian families with arPEO reported by Van Goethem et al. (1997), Van Goethem et al. (2001) identified compound heterozygous mutations in the POLG gene (174763.0002-174763.0004).

Lamantea et al. (2002) identified ...