Dysphagia, or swallowing dysfunction, is a common symptom of Friedreich ataxia. Swallowing becomes difficult as FA advances and there is more and more loss of coordination, weakness, spasticity, or shaking.
Swallowing impairment can occur in the mouth, the pharynx or cavity behind the nose and mouth, and the esophagus or food pipe.
Dysphagia begins gradually in FA, usually with swallowing problems first appearing in the mouth. FA can affect the brain in a way that reduces the speed and coordination of mouth and pharynx muscles, making it difficult to swallow food and drink.
A study found no significant correlations between the severity of dysphagia and the genetic cause of the disease, the age when a person develops FA or the severity of the disease.
Symptoms of dysphagia in Friedreich’s ataxia
One of the most common symptoms of dysphagia is difficulty controlling food or drink in the mouth. This includes food pocketing, or food getting stuck in the cheek, and food sticking in the throat. Other symptoms are difficulty chewing food, dribbling food or drink, coughing or choking when food is entering the mouth, and nasal regurgitation of food or drink — that is, the materials coming out of the nose.
Choking or airway infections can occur if food enters the airways. Swallowing may become even more difficult when a patient has posture or hand-to-mouth coordination difficulties.
Patients with dysphagia are at risk of malnutrition, weight loss, poor oral hygiene, dehydration, and recurrent chest infections.
Dysphagia can have a significant impact on quality of life. Patients report fear of choking, taking extra time for meals, and avoiding specific food or liquids. Embarrassment associated with eating and drinking also can prompt FA patients to avoid social gatherings.
Patients are at additional risk of dysphagia-related cognitive impairment. This is a reduced ability to recognize what constitutes safe eating and drinking.
Assessment of dysphagia in Friedreich’s ataxia
A speech and language therapist assesses dysphagia. The work starts with a comprehensive case history from the patient, his or her family, and caregivers. The history covers dysphagia symptoms; current eating and drinking behavior, including dietary preferences; a patient’s nutritional status; and any food supplements the patient takes.
The therapist examines a patient’s eating, movement, and sensory functions, with a particularly close look at what happens when the patient eats. The therapist may also use imaging to assess a person’s ability to swallow. Techniques include video fluoroscopy, an x-ray procedure, and a fiberoptic endoscopic evaluation of swallowing, which involves putting a thin tube with a camera on it down the mouth to see how a person swallows.
Treating dysphagia in Friedreich’s ataxia
A multidisciplinary team manages dysphagia: speech and language therapists, dieticians, physiotherapists, and occupational therapists. The dietician ensures that a patient obtains optimal nutrition and liquids through the mouth or another way. The physiotherapist and occupational therapist ensure the optimal positioning of aids to deliver food to the mouth. They also may suggest muscle strengthening exercises for swallowing.
Other dysphagia management techniques include having a patient eat food that is not difficult to swallow. Another technique is teaching a patient safe swallowing. One approach is using the chin tuck position, where the chin is tucked to the chest while swallowing. Another is double swallowing or two swallows per mouthful of food.
Other dysphagia management techniques include teaching a patient throat clearing, proper posture, and food-consumption set-up, advising them to eat slowly and take small sips, advising them to avoid talking with food or drink in the mouth, and providing them with oral hygiene advice.
Severe dysphagia may require feeding alternatives, such as percutaneous endoscopic gastrostomy (PEG) tube feeding. It involves making an insertion in the abdominal wall that allows a feeding tube to be run into the stomach. This option is used when patients are no longer able to consume food or drink by mouth to sustain themselves.
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