OFD syndrome type 8
Overview
A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flapss and finger abnormalities.
Symptoms
* Excess mouth frenuli * Enlarged mouth frenuli * Multiple mouth frenuli * Cleft lip * Tongue split in two
Causes
This disorder is characterized by unilateral, intermittent spasms of muscles of the face, eye, and mouth. The patient may have some voluntary control over the spasms. Typically, the spasms are aggravated by emotional upset and disappear during sleep. Spasms may interfere with swallowing and speech.
Diagnosis
If the patient abruptly displays orofacial dyskinesia, review his medication regimen. If he’s taking a phenothiazine or other antipsychotic, withhold the drug if possible, and prepare to give 50 mg of diphenhydramine to reverse the drug’s effects. If he has difficulty swallowing, take precautions necessary to prevent aspiration and choking and have suction equipment on hand. If the patient’s dyskinesia is chronic, ask when it began. Then obtain a complete drug history. Also, note a history of seizures. Next, closely examine the patient’s dyskinesia. Is it unilateral or bilateral? Does it involve the entire face or only part of it? Are neck muscles involved? Does the patient have any voluntary control over the movements? Characterize the abnormal movements. Are they constant, or repetitive and intermittent? Listen to his speech—does it sound abnormal? Can he swallow?
Treatment
If orofacial dyskinesia is drug-induced, assure the patient and his family that movements may disappear eventually, after the drug is stopped. If orofacial dyskinesia is uncontrollable, advise the patient and his family that drug therapy or psychotherapy may be beneficial.