Oculopharyngeal muscular dystrophy

Oculopharyngeal dystrophy (OPD, or oculopharyngeal muscular dystrophy) is an autosomal dominant disorder which appears in early middle age (sixth decade) in individuals with a mutation on the PABPN1 gene. It has also known as obligatory post meal dip.

Presentation

Progressive ptosis (drooping) of the extraocular muscles is the initial clinical finding which continues until paralysis of all eye movements occurs; however, pupillary reactions remain unaffected. Dysphagia (difficulty swallowing), facial weakness and proximal limb weakness develops later on in the disease.

Diagnosis

When investigated in a laboratory, findings include high creatine phosphokinase (CPK) levels (approximately 5 times that of normal levels).

A muscle biopsy reveals abnormal vacuoles within muscle fibres. A distinction between OPD and myasthenia gravis or mitochondrial myopathy must be made. The absence of family history and the fluctuation of symptoms in myasthenia gravis usually distinguish the two conditions.

Treatment

Treatment is supportive to the patient with death eventually occurring from infections. Difficulty with swallowing may result in nasogastric feeding.

Translation of "Oculopharyngeal muscular dystrophy"

French: Dystrophie musculaire oculo-pharyngée.