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MCID: OCL063
MIFTS: 30
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Oculopharyngodistal Myopathy
Categories:
Rare diseases, Neuronal diseases, Eye diseases
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MalaCards integrated aliases for Oculopharyngodistal Myopathy:
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:
ICD10:
34
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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) |
Diseases related to Oculopharyngodistal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Oculopharyngodistal Myopathy:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:164310Human phenotypes related to Oculopharyngodistal Myopathy:32 (show all 22)
UMLS symptoms related to Oculopharyngodistal Myopathy:facial paresis |
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Genetic tests related to Oculopharyngodistal Myopathy:
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MalaCards organs/tissues related to Oculopharyngodistal Myopathy:41
Eye,
Tongue
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Articles related to Oculopharyngodistal Myopathy:(show all 15)
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Genes related to Oculopharyngodistal Myopathy (0 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Oculopharyngodistal Myopathy.
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