Infantile progressive bulbar palsy

Infantile Progressive Bulbar Palsy (also known as Fazio-Londe disease) is a rare, inherited, neurological disorder that primarily affects the bulbar muscles which control speech, swallowing, and breathing. The disease is characterized by progressive weakness and wasting (atrophy) of the muscles that control these functions.

Symptoms

The symptoms of Infantile Progressive Bulbar Palsy typically appear in childhood, usually between the ages of 1 and 3. The most common symptoms include difficulty swallowing (dysphagia), slurred speech (dysarthria), and progressive weakness of the facial muscles. Other symptoms may include drooling, choking, and nasal regurgitation due to the weakness of the bulbar muscles. As the disease progresses, respiratory problems may develop, leading to frequent respiratory infections and eventually respiratory failure.

Causes

Infantile Progressive Bulbar Palsy is caused by mutations in the SMN1 gene. This gene provides instructions for making a protein that is critical for the maintenance of motor neurons, which are the nerve cells that control muscle movement. Mutations in the SMN1 gene lead to a decrease in the amount of this protein, which causes the motor neurons to deteriorate and die, leading to muscle weakness and atrophy.

Diagnosis

Diagnosis of Infantile Progressive Bulbar Palsy is based on the clinical symptoms, a detailed patient history, and specialized tests. These tests may include a nerve conduction study (NCS), electromyography (EMG), and genetic testing to identify mutations in the SMN1 gene.

Treatment

There is currently no cure for Infantile Progressive Bulbar Palsy. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and nutritional support. Respiratory care is crucial due to the risk of respiratory failure.

Prognosis

The prognosis for individuals with Infantile Progressive Bulbar Palsy is generally poor, as the disease is progressive and can lead to life-threatening complications. However, the course of the disease can vary greatly from person to person.

See also

• Spinal muscular atrophy
• Motor neuron disease
• Bulbar palsy