MCID: OCL063
MIFTS: 30

Oculopharyngodistal Myopathy

Categories: Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Oculopharyngodistal Myopathy

MalaCards integrated aliases for Oculopharyngodistal Myopathy:

Name: Oculopharyngodistal Myopathy 57 53 59 29 73
Opdm 57 53 59
Oculopharyngeal Distal Myopathy 53 59
Faciooculolaryngopharyngeal Myopathy with Distal and Respiratory Involvement; Folp-Dr 57
Faciooculolaryngopharyngeal Myopathy with Distal and Respiratory Involvement 57
Folp-Dr 57

Characteristics:

Orphanet epidemiological data:

59
oculopharyngodistal myopathy
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

57
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:

32
oculopharyngodistal myopathy:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Oculopharyngodistal Myopathy

NIH Rare Diseases : 53 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 myopathy and muscular dystrophy, 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 high palate and sensorineural hearing impairment

OMIM : 57 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:

# Related Disease Score Top Affiliating Genes
1 myopathy 29.3 GNE PABPN1
2 muscular dystrophy 29.0 GNE PABPN1
3 oculopharyngeal muscular dystrophy 10.1
4 distal muscular dystrophy 10.0
5 intestinal pseudo-obstruction 10.0
6 muscle tissue disease 9.4 GNE PABPN1
7 neuromuscular disease 9.3 GNE PABPN1

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



Diseases related to Oculopharyngodistal Myopathy

Symptoms & Phenotypes for Oculopharyngodistal Myopathy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
external ophthalmoplegia

Abdomen Gastrointestinal:
dysphagia

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)

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

Muscle Soft Tissue:
difficulty walking
distal muscle weakness
proximal muscle weakness
rimmed vacuoles
foot drop
more
Head And Neck Face:
facial muscle weakness
facial muscle atrophy
myopathic face

Growth Weight:
weight loss due to dysphagia

Respiratory Larynx:
laryngeal weakness
bowing of the vocal cords


Clinical features from OMIM:

164310

Human phenotypes related to Oculopharyngodistal Myopathy:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
3 ptosis 32 HP:0000508
4 external ophthalmoplegia 32 HP:0000544
5 dysarthria 32 HP:0001260
6 areflexia 32 HP:0001284
7 nasal speech 32 HP:0001611
8 dysphagia 32 HP:0002015
9 myopathic facies 32 HP:0002058
10 restrictive ventilatory defect 32 HP:0002091
11 difficulty walking 32 HP:0002355
12 distal muscle weakness 32 HP:0002460
13 respiratory insufficiency due to muscle weakness 32 HP:0002747
14 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236
15 emg 32 HP:0003458
16 increased variability in muscle fiber diameter 32 HP:0003557
17 distal amyotrophy 32 HP:0003693
18 proximal muscle weakness 32 HP:0003701
19 rimmed vacuoles 32 HP:0003805
20 bowing of the vocal cords 32 HP:0008756
21 foot dorsiflexor weakness 32 HP:0009027
22 facial palsy 32 HP:0010628

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 29

Anatomical Context for Oculopharyngodistal Myopathy

MalaCards organs/tissues related to Oculopharyngodistal Myopathy:

41
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 and acquired noncompaction. ( 21600770 )
2011
5
Oculopharyngodistal myopathy--a possible association with cardiomyopathy. ( 21041087 )
2011
6
Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients. ( 21242490 )
2011
7
The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family. ( 18503509 )
2008
8
Oculopharyngodistal myopathy in a Thai family. ( 15822551 )
2004
9
Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. ( 15377709 )
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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