MCID: OCL063
MIFTS: 31

Oculopharyngodistal Myopathy

Categories: Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Oculopharyngodistal Myopathy

MalaCards integrated aliases for Oculopharyngodistal Myopathy:

Name: Oculopharyngodistal Myopathy 53 49 55 28 69
Opdm 53 49 55
Oculopharyngeal Distal Myopathy 49 55
Faciooculolaryngopharyngeal Myopathy with Distal and Respiratory Involvement; Folp-Dr 53
Faciooculolaryngopharyngeal Myopathy with Distal and Respiratory Involvement 53
Folp-Dr 53

Characteristics:

Orphanet epidemiological data:

55
oculopharyngodistal myopathy
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

53
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:

31
oculopharyngodistal myopathy:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Oculopharyngodistal Myopathy

NIH Rare Diseases : 49 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. Last updated: 11/1/2017

MalaCards based summary : Oculopharyngodistal Myopathy, also known as opdm, is related to myopathy and oculopharyngeal muscular dystrophy, and has symptoms including high palate, ptosis and dysarthria. An important gene associated with Oculopharyngodistal Myopathy is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase). Affiliated tissues include eye and tongue.

OMIM : 53 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 29.9 GNE PABPN1
2 oculopharyngeal muscular dystrophy 10.1
3 muscular dystrophy 10.1
4 intestinal pseudo-obstruction 10.0
5 muscle tissue disease 9.6 GNE PABPN1
6 neuromuscular disease 9.6 GNE PABPN1
7 inclusion body myositis 9.5 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:

53
Head And Neck Eyes:
ptosis
external ophthalmoplegia

Abdomen Gastroin testinal:
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:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 ptosis 31 HP:0000508
3 dysarthria 31 HP:0001260
4 dysphagia 31 HP:0002015
5 facial palsy 31 HP:0010628
6 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
7 respiratory insufficiency due to muscle weakness 31 HP:0002747
8 elevated serum creatine phosphokinase 31 occasional (7.5%) HP:0003236
9 nasal speech 31 HP:0001611
10 areflexia 31 HP:0001284
11 difficulty walking 31 HP:0002355
12 myopathic facies 31 HP:0002058
13 external ophthalmoplegia 31 HP:0000544
14 distal muscle weakness 31 HP:0002460
15 proximal muscle weakness 31 HP:0003701
16 rimmed vacuoles 31 HP:0003805
17 increased variability in muscle fiber diameter 31 HP:0003557
18 distal amyotrophy 31 HP:0003693
19 foot dorsiflexor weakness 31 HP:0009027
20 restrictive ventilatory defect 31 HP:0002091
21 bowing of the vocal cords 31 HP:0008756
22 emg 31 HP:0003458

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 28

Anatomical Context for Oculopharyngodistal Myopathy

MalaCards organs/tissues related to Oculopharyngodistal Myopathy:

38
Eye, Tongue

Publications for Oculopharyngodistal Myopathy

Articles related to Oculopharyngodistal Myopathy:

(show all 14)
# 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 is a distinct entity: clinical and genetic features of 47 patients. ( 21242490 )
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
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. ( 11595511 )
2001
11
Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. ( 9608566 )
1998
12
Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction. ( 7630344 )
1995
13
Oculopharyngodistal myopathy with early onset and neurogenic features. ( 216518 )
1977
14
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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