OPDM
MCID: OCL063
MIFTS: 31

Oculopharyngodistal Myopathy (OPDM)

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Oculopharyngodistal Myopathy

MalaCards integrated aliases for Oculopharyngodistal Myopathy:

Name: Oculopharyngodistal Myopathy 58 54 60 30 74
Opdm 58 54 60
Oculopharyngeal Distal Myopathy 54 60
Faciooculolaryngopharyngeal Myopathy with Distal and Respiratory Involvement; Folp-Dr 58
Faciooculolaryngopharyngeal Myopathy with Distal and Respiratory Involvement 58
Folp-Dr 58

Characteristics:

Orphanet epidemiological data:

60
oculopharyngodistal myopathy
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
slowly progressive disorder
mean age at onset 22 years (range 7 to 50 years)
ptosis is usually presenting feature
other muscle become involved about 5 years after onset
highly variable severity of muscle weakness
both autosomal dominant and autosomal recessive inheritance have been described


HPO:

33
oculopharyngodistal myopathy:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Oculopharyngodistal Myopathy

NIH Rare Diseases : 54 Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.

MalaCards based summary : Oculopharyngodistal Myopathy, also known as opdm, is related to muscular dystrophy and myopathy, and has symptoms including facial paresis An important gene associated with Oculopharyngodistal Myopathy is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase). Affiliated tissues include eye and tongue, and related phenotypes are sensorineural hearing impairment and elevated serum creatine kinase

OMIM : 58 Oculopharyngodistal myopathy (OPDM) is characterized by adult-onset of eye and facial muscle weakness, distal muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. There are variable manifestations of the disorder regarding muscle involvement and severity. Both autosomal recessive and autosomal dominant inheritance have been reported. OPDM is considered distinct from oculopharyngeal muscular dystrophy (OPMD; 164300), which is caused by mutation in the PABPN1 gene (602279) (summary by Durmus et al., 2011). (164310)

Related Diseases for Oculopharyngodistal Myopathy

Diseases related to Oculopharyngodistal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 29.7 GNE PABPN1
2 myopathy 10.7
3 muscle disorders 10.5
4 oculopharyngeal muscular dystrophy 10.3
5 myopathy, distal, with rimmed vacuoles 10.1
6 ptosis 10.1
7 miyoshi muscular dystrophy 10.1
8 facial paralysis 10.1
9 intestinal pseudo-obstruction 10.1
10 chronic intestinal pseudoobstruction 10.1
11 muscle tissue disease 9.7 GNE PABPN1
12 neuromuscular disease 9.7 GNE PABPN1
13 muscular disease 9.6 GNE PABPN1

Graphical network of the top 20 diseases related to Oculopharyngodistal Myopathy:



Diseases related to Oculopharyngodistal Myopathy

Symptoms & Phenotypes for Oculopharyngodistal Myopathy

Human phenotypes related to Oculopharyngodistal Myopathy:

33 60 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
2 elevated serum creatine kinase 33 occasional (7.5%) HP:0003236
3 high palate 60 33 Frequent (79-30%) HP:0000218
4 respiratory insufficiency due to muscle weakness 60 33 Frequent (79-30%) HP:0002747
5 areflexia 60 33 Occasional (29-5%) HP:0001284
6 difficulty walking 60 33 Occasional (29-5%) HP:0002355
7 myopathic facies 60 33 Frequent (79-30%) HP:0002058
8 foot dorsiflexor weakness 60 33 Occasional (29-5%) HP:0009027
9 restrictive ventilatory defect 60 33 Occasional (29-5%) HP:0002091
10 bowing of the vocal cords 60 33 Frequent (79-30%) HP:0008756
11 ptosis 33 HP:0000508
12 dysarthria 33 HP:0001260
13 dysphagia 33 HP:0002015
14 facial palsy 33 HP:0010628
15 weight loss 60 Very frequent (99-80%)
16 high, narrow palate 60 Frequent (79-30%)
17 emg: myopathic abnormalities 33 HP:0003458
18 rimmed vacuoles 33 HP:0003805
19 proximal muscle weakness in upper limbs 60 Very rare (<4-1%)
20 ophthalmoparesis 60 Very frequent (99-80%)
21 progressive external ophthalmoplegia 60 Very frequent (99-80%)
22 fatigable weakness of bulbar muscles 60 Occasional (29-5%)
23 recurrent aspiration pneumonia 60 Frequent (79-30%)
24 nasal speech 33 HP:0001611
25 proximal muscle weakness 33 HP:0003701
26 increased variability in muscle fiber diameter 33 HP:0003557
27 distal lower limb muscle weakness 60 Frequent (79-30%)
28 external ophthalmoplegia 33 HP:0000544
29 progressive proximal muscle weakness 60 Occasional (29-5%)
30 distal muscle weakness 33 HP:0002460
31 tibialis muscle weakness 60 Occasional (29-5%)
32 vocal cord paresis 60 Frequent (79-30%)
33 abnormality of masseter muscle 60 Occasional (29-5%)
34 distal upper limb muscle weakness 60 Occasional (29-5%)
35 distal amyotrophy 33 HP:0003693
36 oral-pharyngeal dysphagia 60 Frequent (79-30%)
37 progressive sensorineural hearing impairment 60 Occasional (29-5%)
38 distal lower limb amyotrophy 60 Frequent (79-30%)
39 difficulty in tongue movements 60 Frequent (79-30%)
40 paraplegia 60 Very rare (<4-1%)
41 loss of ability to walk 60 Occasional (29-5%)
42 weakness of facial musculature 60 Very frequent (99-80%)
43 abnormality of facial musculature 60 Very frequent (99-80%)
44 progressive distal muscle weakness 60 Frequent (79-30%)
45 abnormality of orbicularis oris muscle 60 Very rare (<4-1%)
46 autophagic vacuoles 33 HP:0003736
47 aspiration 33 HP:0002835
48 abnormality of musculature of pharynx 60 Frequent (79-30%)
49 distal upper limb amyotrophy 60 Frequent (79-30%)
50 nasal, dysarthic speech 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
external ophthalmoplegia

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
rimmed vacuoles
difficulty walking
proximal muscle weakness
distal muscle weakness
foot drop
more
Respiratory Larynx:
bowing of the vocal cords
laryngeal weakness

Head And Neck Face:
facial muscle weakness
facial muscle atrophy
myopathic face

Growth Weight:
weight loss due to dysphagia

Laboratory Abnormalities:
serum creatine kinase may be normal or increased

Voice:
dysarthria
nasal voice

Respiratory:
respiratory insufficiency due to muscle weakness
restrictive ventilatory defect
recurrent pneumonia due to aspiration

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Mouth:
high-arched palate
tongue weakness

Respiratory Nasopharynx:
pharyngeal weakness

Head And Neck Ears:
hearing loss, sensorineural (less common)

Clinical features from OMIM:

164310

UMLS symptoms related to Oculopharyngodistal Myopathy:


facial paresis

Drugs & Therapeutics for Oculopharyngodistal Myopathy

Search Clinical Trials , NIH Clinical Center for Oculopharyngodistal Myopathy

Genetic Tests for Oculopharyngodistal Myopathy

Genetic tests related to Oculopharyngodistal Myopathy:

# Genetic test Affiliating Genes
1 Oculopharyngodistal Myopathy 30

Anatomical Context for Oculopharyngodistal Myopathy

MalaCards organs/tissues related to Oculopharyngodistal Myopathy:

42
Eye, Tongue

Publications for Oculopharyngodistal Myopathy

Articles related to Oculopharyngodistal Myopathy:

(show all 15)
# Title Authors Year
1
Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy. ( 26039504 )
2015
2
Surgical treatment of severe blepharoptosis and facial palsy caused by oculopharyngodistal myopathy. ( 23602269 )
2013
3
The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis. ( 22652077 )
2012
4
Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients. ( 21242490 )
2011
5
Oculopharyngodistal myopathy and acquired noncompaction. ( 21600770 )
2011
6
Oculopharyngodistal myopathy--a possible association with cardiomyopathy. ( 21041087 )
2011
7
The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family. ( 18503509 )
2008
8
Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. ( 15377709 )
2004
9
Oculopharyngodistal myopathy in a Thai family. ( 15822551 )
2004
10
[Anesthetic management of a patient with oculopharyngodistal-myopathy]. ( 12649870 )
2003
11
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. ( 11595511 )
2001
12
Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. ( 9608566 )
1998
13
Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction. ( 7630344 )
1995
14
Oculopharyngodistal myopathy with early onset and neurogenic features. ( 216518 )
1977
15
Oculopharyngodistal myopathy. ( 836191 )
1977

Variations for Oculopharyngodistal Myopathy

Expression for Oculopharyngodistal Myopathy

Search GEO for disease gene expression data for Oculopharyngodistal Myopathy.

Pathways for Oculopharyngodistal Myopathy

GO Terms for Oculopharyngodistal Myopathy

Sources for Oculopharyngodistal Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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