Some of the tested molecules are: trehalose, intracellular antibodies, some anti-inflammatory drugs and doxycycline. The results of an experimental autotransplantation of cells extracted from patients “healthy” muscles fibers are still awaited.
Therefore we can say that medical treatment for oculo-pharyngeal dystrophy currently doesn’t exist. However, guidelines and suggestions regarding lifestyle have been outlined.
In particular, it seems worth to recommend a diet rich in protein, especially when severe dysphagia leads the patient to avoid certain foods such as meat. Patients should be further reassured about the risk of choking, which is actually very low, while they should be advised about the importance of quickly contact their doctor if they develop productive cough and fever, given the high risk of dangerous (mortal) ab ingestis pneumonia (i.e. penumonia due to the aspiration of food).
Work out to maintain a good cardiovascular shape is recommended too, even if patients should not be encouraged to engage in extreme activities.
Many patients in advanced stages of disease may experience the need to walk with the aid of a cane, but only a few will actually require a wheelchair, mostly just to cover long distances.
It is also essential to prevent falls that could lead fractures.
Moderately to severely affected patients may be referred to surgery to correct the ptosis and to treat dysphagia (remember that the disease is highly variable and not all patients are equally affected).
Two surgical procedures can be performed to correct the ptosis and both give good results: 1) the resection of the levator palpebrae aponeurosis and 2) the frontal suspension of the eyelid. The resection of the levator palpebrae aponeurosis is relatively easy to perform, but it usually needs to be repeated once or twice.
The eyelid suspension is performed by the use of a synthetic thread (or derived from the muscle fascia) that is inserted as a sling into the tarsal plate of the upper eyelid and therefore attached at its ends to the frontalis muscle (which is rather preserved in oculo-pharyngeal dystrophy). The main advantage of this type of intervention lies in the fact that it is permanent and does not require to be repeated, though, when the wire is made from a fascia, it needs to be performed under general anesthesia.
Surgery for dysphagia should be reserved to severe cases experiencing marked reduction in body weight and episodes of choking or pneumonia. In most cases, the symptoms are relieved by cricopharyngeal myotomia, although dysphagia unfortunately tends to recur in the years. Interventions for the upper oesophagus dilatation by the use of promptly dissolving solids (bougies, i.e. candles) or by the injection of botulinum toxin are still in an experimental phase.
Oculo-pharingeal dystrophy is transmitted in accordance with autosomal dominant inheritance models (or rarely autosomal recessive). The mutations have been identified on the PABPN1 gene.
References
Abu-Baker A, Rouleau GA.Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Biochim Biophys Acta. 2007 Feb;1772(2):173-85. PMID: 17110089
Brais B. Oculopharyngeal muscular distrophy: a polyalanine myopathy. Curr Neurol Neurosci Rep. 2009; 9(1):76-82. PMID: 19080757
Urtizberea JA. Oculopharyngeal muscular dystrophy. Orphanet Encyclopedia, february 2004. URL: www.orpha.net, retrieved on 15th Sep 2010.
