Phenotype #0000317241

Individual ID 00426077
Associated disease OPDM
Diagnosis/Initial oculopharyngodistal myopathy
Diagnosis/Definite OPDM4
Phenotype details ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; distal weakness; no cardiac involvement; no gastrointestinal involvement; raised creatine kinase level 665 U?L; EMG myopathic changes; muscle biopsy rimmed vacuoles, intranuclear inclusions
Inheritance Familial, autosomal dominant
Age/Examination 33y (33 years)
Age/Diagnosis -
Age/Onset 20y
Phenotype/Onset weakness in bilateral legs
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-11-27 16:21:07 +01:00 (CET)
Date last edited N/A

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