Oculopharyngodistal myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: FOLP-DR
FACIOOCULOLARYNGOPHARYNGEAL MYOPATHY WITH DISTAL AND RESPIRATORY INVOLVEMENT
OPDM
Number of Symptoms 38
OrphanetNr: 98897
OMIM Id: 164310
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Distal myopathy
 -Rare genetic disease
 -Rare neurologic disease
Progressive muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Ptosis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002058) Myopathic facies 26 / 7739
2
 (HPO:0010628) Facial palsy 146 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0000544) External ophthalmoplegia 40 / 7739
5
 (HPO:0000508) Ptosis 459 / 7739
6
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
7
 (HPO:0000407) Sensorineural hearing impairment Rare [HPO:probinson] 524 / 7739
8
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
9
 (HPO:0002015) Dysphagia 301 / 7739
10
 (HPO:0002355) Difficulty walking 61 / 7739
11
 (HPO:0001284) Areflexia 198 / 7739
12
 (HPO:0001260) Dysarthria 329 / 7739
13
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
14
 (HPO:0003236) Elevated serum creatine phosphokinase Occasional [HPO:probinson] 214 / 7739
15
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
16
 (HPO:0001611) Nasal speech 48 / 7739
17
 (HPO:0008756) Bowing of the vocal cords 2 / 7739
18
 (HPO:0003693) Distal amyotrophy 118 / 7739
19
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
20
 (HPO:0003805) Rimmed vacuoles 22 / 7739
21
 (HPO:0003701) Proximal muscle weakness 105 / 7739
22
 (HPO:0002460) Distal muscle weakness 122 / 7739
23
 (HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
24
 (OMIM) Facial muscle atrophy 1 / 7739
25
 (OMIM) Angulated fibers 1 / 7739
26
 (OMIM) Restrictive ventilatory defect 1 / 7739
27
 (OMIM) Myogenic changes seen on EMG 1 / 7739
28
 (OMIM) Autophagic vacuoles with multilamellar structures seen on electron microscopy 1 / 7739
29
 (OMIM) Pharyngeal weakness 2 / 7739
30
 (OMIM) Weight loss due to dysphagia 1 / 7739
31
 (OMIM) Fiber size variation seen on muscle biopsy 1 / 7739
32
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
 (OMIM) Laryngeal weakness 1 / 7739
35
 (OMIM) Recurrent pneumonia due to aspiration 1 / 7739
36
 (OMIM) Tongue weakness 2 / 7739
37
 (HPO:0003677) Slow progression 134 / 7739
38
 (OMIM) Serum creatine kinase may be normal or increased 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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. ...
Clinical Description OMIM Satoyoshi and Kinoshita (1977) described 4 families with a form of oculopharyngeal myopathy characterized by adult-onset of slowly progressive ptosis and extraocular palsy, weakness of the masseter, facial, and bulbar muscles, and distal weakness of the limbs. In ...