Progressive Bulbar Atrophy; Bulbar Paralysis; Bulbar Palsy; Fazio-Londe Syndrome; Fazio-Londe Disease; Infantile Progressive Bulbar Palsy

Progressive Bulbar Palsy (PBP) is a motor neuron disease that involves the brain stem—the bulb-shaped region containing lower motor neurons needed for swallowing, speaking, chewing, and other functions.  Symptoms include pharyngeal muscle weakness (involved with swallowing), weak jaw and facial muscles, progressive loss of speech, and tongue muscle atrophy. Limb weakness with both lower and upper motor neuron signs is almost always evident but less prominent. Individuals are at increased risk of choking and aspiration pneumonia, which is caused by the passage of liquids and food through the vocal folds and into the lower airways and lungs. Affected persons may have unusual outbursts of laughing or crying (called emotional lability). Stroke and myasthenia gravis may have certain symptoms that are similar to those of progressive bulbar palsy and must be ruled out prior to diagnosing this disorder. The exact cause of PBP is unknown.

Diagnostic testing: The diagnosis of PBP is based on:

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  History and neurological examination;

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  Electrophysiological and neuroimaging testing to rule out other impairments;

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  Needle electromyogram (EMG);

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  Nerve conduction study; and

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  Analysis of the cerebral spinal fluid to rule out other causes of symptoms.

Physical findings:

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  Spastic dysarthria (difficulties with articulation, stammering or stuttering);

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  Pseudobulbar reflexes; and

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  Pseudobulbar affect (uncontrollable crying or laughing).

ICD-9: 335.22

The prognosis for PBP is poor. The symptoms of PBP slowly worsen with onset beginning between the ages of 50-70 years. Most people with PBP die from respiratory failure, usually within ten years from the onset of symptoms.

Treatment of PBP is symptoms specific and supportive. Medications such as riluzole are prescribed to prolong survival. Other medications may be prescribed to help reduce fatigue, ease muscle cramps, control spasticity and reduce excess saliva and phlegm. A multidisciplinary team of health care professionals can design an individualized plan for medical and physical therapy and provide special equipment aimed at keeping the individual as mobile and comfortable as possible. As swallowing, tongue control, and pharyngeal muscles weaken, a speech therapist and nutritionist may be consulted.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the disorder;

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  Full neurological examination with emphasis on motor function and coordination, gait and balance, eye movements and gaze, and cognitive function; and

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  Brain imaging may provide supporting evidence.

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