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CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ |
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Česky / Czech version | Čes. a slov. Neurol. Neurochir., 67/100, 2004, No. 5, p. 377–379. |
Case report of a genetically
verified oculopharyngeal muscular dystrophy Rusina R.1, Seemanová E.3, Lukáš Z.4, Vyšata O.2, Bartoš A.2 1Neurologická klinika Fakultní Thomayerovy nemocnice a IPVZ, Praha, 2Neurologická klinika FN Královské Vinohrady a 3. LF UK, Praha, 3Ústav biologie a lékařské genetiky FN Motol a 2. LF UKPraha, 4Patologicko-anatomický ústav FN Brno |
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Summary: Oculopharyngeal muscular dystrophy (OPMD) is a rare inherited myopathy with an autosomal dominant
pattern of transmission. Typical clinical signs are bilateral ptosis, progressive dysphagia and
proximal muscular weakness. Histological findings include autophagic vacuoles and intranuclear
inclusions in muscle tissue. The diagnosis can be confirmed by genetic analysis showing a mutation in
the PABP-2 gene on chromozome 14 with an expansion of GCG triplets. We report the case of a patient
with a typical clinical picture, autophagic vacuoles in a muscle biopsy and subsequent genetic verification.
By our means this is the first observation of this disease in the Czech Republic.
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