Treatment Oculopharyngeal muscular dystrophy (OPMD)

There is no overall curative treatment for OPMD. However, the two most prominent problems – ptosis and dysphagia – can be helped by medical management.

Management of ptosis

Surgical elevation of the eyelids can be very successful – several procedures are possible and should be tailored to the individual. None of the procedures is major, but quite delicate and fiddly. The aim is to preserve symmetry and allow restored vision while still allowing eye closure. Like many procedures, these are best performed by a surgeon with an interest in this form of surgery, often an oculoplastic surgeon.

Management of dysphagia

Mild dysphagia can be helped by suitable attention to the consistency of the diet and by strategies taught by a speech therapist (often called a speech and language therapist – SALT). Food supplements may be advised by a dietician if there is weight loss. In more troublesome dysphagia, because the upper oesophageal sphincter can obstruct weak swallowing, stretching or cutting this muscle often helps, at least for a while. This is achieved either by stretching the muscle with a dilator, or cutting it in an operation called cricopharyngeal myotomy. A similar but temporary effect can be produced with botulinim toxin (‘Botox’) injection. The choice of procedure is often dictated by local expertise and facilities as much as patient preference.

If dysphagia over many years fails to respond to such measures, and progresses to preventing adequate nutrition, or there is a risk of aspiration pneumonia, then alternative methods of feeding can be used. The most acceptable, in the long term, is a gastrostomy. This is a minor operation to pass a tube through the front of the abdomen directly into the stomach. These days this is often achieved by a PEG (percutaneous gastrostomy), or a RIG (radiographically inserted gastrostomy). These relatively minor procedures can sometimes be done as a day case.

A gastrostomy (PEG or RIG) has several advantages: it ensures adequate nutrition and hydration, it lessens the chance of aspiration pneumonia, while still allowing people with OPMD to swallow small quantities of food or drink if they are able. A PEG or RIG is unobtrusive and can be concealed under clothes.

Experienced physicians advise that a gastrostomy be performed before swallowing becomes very impaired. Problems may arise if it is delayed until dysphagia is severe. A dietician can offer advice with respect to PEG or RIG feeding and supplements to help maintain adequate nutrition.

Physiotherapy and assistive aids may be useful to help cope if limb weakness occurs. Occupational therapy is often helpful, particularly if activities of daily living are affected by limb weakness.

Further suggestions to reduce problems with OPMD include an annual flu vaccination, especially for older people. In patients with significant dysphagia, a prompt evaluation of a productive cough is advised.

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