OPDM1
MCID: OCL076
MIFTS: 35

Oculopharyngodistal Myopathy 1 (OPDM1)

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

Aliases & Classifications for Oculopharyngodistal Myopathy 1

MalaCards integrated aliases for Oculopharyngodistal Myopathy 1:

Name: Oculopharyngodistal Myopathy 1 56 73
Oculopharyngodistal Myopathy 56 52 58 73 29 6
Opdm 56 52 58 73
Faciooculolaryngopharyngeal Myopathy with Distal and Respiratory Involvement 56 73
Oculopharyngeal Distal Myopathy 52 58
Folp-Dr 56 73
Opdm1 56 73
Faciooculolaryngopharyngeal Myopathy with Distal and Respiratory Involvement; Folp-Dr 56
Myopathy, Oculopharyngodistal, Type 1 39
Oculopharyngodistal Myopathy; Opdm 56
Myopathy, Oculopharyngodistal 39

Characteristics:

Orphanet epidemiological data:

58
oculopharyngodistal myopathy
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

56
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 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Oculopharyngodistal Myopathy 1

NIH Rare Diseases : 52 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 1, also known as oculopharyngodistal myopathy, is related to distal myopathy with vocal cord weakness and myopathy. An important gene associated with Oculopharyngodistal Myopathy 1 is LRP12 (LDL Receptor Related Protein 12). The drugs Levodopa and Carbidopa have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and tongue, and related phenotypes are weight loss and progressive external ophthalmoplegia

OMIM : 56 Oculopharyngodistal myopathy-1 (OPDM1) is an autosomal dominant disorder characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. Skeletal muscle biopsy shows myopathic changes with rimmed vacuoles. There are variable manifestations of the disorder regarding muscle involvement and severity (summary by Ishiura et al., 2019). OPDM is distinct from oculopharyngeal muscular dystrophy (OPMD; 164300), which is usually caused by a similar heterozygous trinucleotide repeat expansion in the PABPN1 gene (602279) (summary by Durmus et al., 2011). (164310)

UniProtKB/Swiss-Prot : 73 Oculopharyngodistal myopathy 1: A disease characterized by ptosis, external ophthalmoplegia and weakness of the masseter, facial, pharyngeal and distal limb muscles. OPDM1 inheritance can be autosomal dominant or autosomal recessive.

Related Diseases for Oculopharyngodistal Myopathy 1

Graphical network of the top 20 diseases related to Oculopharyngodistal Myopathy 1:



Diseases related to Oculopharyngodistal Myopathy 1

Symptoms & Phenotypes for Oculopharyngodistal Myopathy 1

Human phenotypes related to Oculopharyngodistal Myopathy 1:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
2 progressive external ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000590
3 nasal, dysarthic speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0008376
4 weakness of facial musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0030319
5 progressive ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007838
6 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
7 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
8 vocal cord paresis 58 31 frequent (33%) Frequent (79-30%) HP:0001604
9 recurrent aspiration pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0002100
10 oral-pharyngeal dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0200136
11 impaired oropharyngeal swallow response 58 31 frequent (33%) Frequent (79-30%) HP:0031162
12 distal upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007149
13 distal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008944
14 myopathic facies 58 31 frequent (33%) Frequent (79-30%) HP:0002058
15 difficulty in tongue movements 58 31 frequent (33%) Frequent (79-30%) HP:0000183
16 progressive distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009063
17 bowing of the vocal cords 58 31 frequent (33%) Frequent (79-30%) HP:0008756
18 abnormal morphology of musculature of pharynx 31 frequent (33%) HP:0430015
19 restrictive ventilatory defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0002091
20 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
21 progressive proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009073
22 fatigable weakness of bulbar muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030192
23 loss of ability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0006957
24 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
25 progressive sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000408
26 distal upper limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0008959
27 foot dorsiflexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009027
28 tibialis muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0008963
29 abnormality of masseter muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:3000005
30 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
31 elevated serum creatine kinase 31 occasional (7.5%) HP:0003236
32 proximal muscle weakness in upper limbs 58 31 very rare (1%) Very rare (<4-1%) HP:0008997
33 paraplegia 58 31 very rare (1%) Very rare (<4-1%) HP:0010550
34 abnormality of orbicularis oris muscle 58 31 very rare (1%) Very rare (<4-1%) HP:3000010
35 high palate 58 31 Frequent (79-30%) HP:0000218
36 dysphagia 31 HP:0002015
37 ptosis 31 HP:0000508
38 emg: myopathic abnormalities 31 HP:0003458
39 rimmed vacuoles 31 HP:0003805
40 dysarthria 31 HP:0001260
41 facial palsy 31 HP:0010628
42 nasal speech 31 HP:0001611
43 ophthalmoparesis 58 Very frequent (99-80%)
44 distal lower limb muscle weakness 58 Frequent (79-30%)
45 external ophthalmoplegia 31 HP:0000544
46 distal amyotrophy 31 HP:0003693
47 distal muscle weakness 31 HP:0002460
48 proximal muscle weakness 31 HP:0003701
49 increased variability in muscle fiber diameter 31 HP:0003557
50 aspiration 31 HP:0002835

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia

Head And Neck Eyes:
ptosis
external ophthalmoplegia

Voice:
dysarthria
nasal voice

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

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

Muscle Soft Tissue:
rimmed vacuoles
distal muscle weakness
proximal muscle weakness
difficulty walking
foot drop
more
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

Drugs & Therapeutics for Oculopharyngodistal Myopathy 1

Drugs for Oculopharyngodistal Myopathy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 3 59-92-7 6047
2
Carbidopa Approved Phase 3 28860-95-9 34359
3 Dopamine Agents Phase 3
4 Dopamine agonists Phase 3
5 Neurotransmitter Agents Phase 3
6 Antiparkinson Agents Phase 3
7 Adjuvants, Immunologic Phase 3
8 Carbidopa, levodopa drug combination Phase 3
9 Immunologic Factors Phase 3
10
Dopamine Approved Phase 2 51-61-6, 62-31-7 681

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label Conversion Study of Carbidopa-Levodopa (CD-LD) Extended-Release Taken Alone or in Combination With CD-LD Immediate Release to IPX066 Followed by an Open-Label Extension Safety Study of IPX066 in Advanced PD Completed NCT01411137 Phase 3 IPX066
2 The Parkinson's Progression Markers Initiative (PPMI) Recruiting NCT01141023 Phase 2 DaTscan

Search NIH Clinical Center for Oculopharyngodistal Myopathy 1

Genetic Tests for Oculopharyngodistal Myopathy 1

Genetic tests related to Oculopharyngodistal Myopathy 1:

# Genetic test Affiliating Genes
1 Oculopharyngodistal Myopathy 29

Anatomical Context for Oculopharyngodistal Myopathy 1

MalaCards organs/tissues related to Oculopharyngodistal Myopathy 1:

40
Eye, Skeletal Muscle, Tongue

Publications for Oculopharyngodistal Myopathy 1

Articles related to Oculopharyngodistal Myopathy 1:

(show all 22)
# Title Authors PMID Year
1
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. 61 56 6
31332380 2019
2
Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients. 61 52 56
21242490 2011
3
Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. 61 56
15377709 2004
4
Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. 61 56
9608566 1998
5
Oculopharyngodistal myopathy. 61 56
836191 1977
6
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy. 61
32413282 2020
7
Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12. 61
32493488 2020
8
Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2. 61
25529940 2015
9
Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy. 61
26039504 2015
10
Surgical treatment of severe blepharoptosis and facial palsy caused by oculopharyngodistal myopathy. 61
23602269 2013
11
The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis. 61
22652077 2012
12
Oculopharyngodistal myopathy and acquired noncompaction. 61
21600770 2011
13
Oculopharyngodistal myopathy--a possible association with cardiomyopathy. 61
21041087 2011
14
The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family. 61
18503509 2008
15
Oculopharyngodistal myopathy in a Thai family. 61
15822551 2004
16
[Anesthetic management of a patient with oculopharyngodistal-myopathy]. 61
12649870 2003
17
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. 61
11595511 2001
18
[Oculopharyngodistal myopathy]. 61
11596437 2001
19
Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction. 61
7630344 1995
20
[Significance of rimmed vacuoles in neuromuscular disorders--a comparative immunohistochemical study of inclusion body myositis and distal myopathy with rimmed vacuole formation]. 61
7994984 1994
21
Oculopharyngodistal myopathy with early onset and neurogenic features. 61
216518 1977
22
[Oculopharyngodistal myopathy--study of 4 families]. 61
557397 1977

Variations for Oculopharyngodistal Myopathy 1

ClinVar genetic disease variations for Oculopharyngodistal Myopathy 1:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRP12 LRP12, (CGG)n REPEAT EXPANSIONNT expansion Pathogenic 692233

Expression for Oculopharyngodistal Myopathy 1

Search GEO for disease gene expression data for Oculopharyngodistal Myopathy 1.

Pathways for Oculopharyngodistal Myopathy 1

GO Terms for Oculopharyngodistal Myopathy 1

Sources for Oculopharyngodistal Myopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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