Fazio-Londe disease, also called progressive bulbar palsy of childhood, is an inherited motor neuron disease found in children and young adults.

Progressive bulbar palsy

Progressive bulbar palsy

Progressive bulbar palsy is a medical condition. It belongs to a group of disorders known as motor neuron diseases . PBP is a disease that attacks the nerves supplying the bulbar muscles. These disorders are characterized by the degeneration of motor neurons in the cerebral cortex, spinal cord,...

 is characterized by progressive paralysis of muscles innervated by cranial nerves

Cranial nerves

Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord. In humans, there are traditionally twelve pairs of cranial nerves...

.

Signs and symptoms

It produces rapidly progressive weakness of tongue, face and pharyngeal muscles in a clinical pattern similar to myasthenia

Myasthenia

-Medical conditions:* Myasthenia gravis* Ocular myasthenia* Lambert-Eaton myasthenic syndrome...

 bulbar palsy. Neuromuscular transmission may be abnormal in these muscles because of rapid denervation and immature reinervation, and strength may improve with administration of cholinesterase inhibitors. Paralysis occurs secondary to degeneration of the motor neurons of the brain stem

Brain stem

In vertebrate anatomy the brainstem is the posterior part of the brain, adjoining and structurally continuous with the spinal cord. The brain stem provides the main motor and sensory innervation to the face and neck via the cranial nerves...

. It causes progressive bulbar paralysis due to involvement of motor neurons of the cranial nerve nuclei. The most frequent symptoms at onset of progressive bulbar paralysis of childhood has been a unilateral facial paralysis. It is followed in frequency by dysarthria

Dysarthria

Dysarthria is a motor speech disorder resulting from neurological injury of the motor component of the motor-speech system and is characterized by poor articulation of phonemes...

 due to facial weakness or by dysphagia

Dysphagia

Dysphagia is the medical term for the symptom of difficulty in swallowing. Although classified under "symptoms and signs" in ICD-10, the term is sometimes used as a condition in its own right. Sufferers are sometimes unaware of their dysphagia....

. Palatal weakness and palpebral ptosis

Ptosis

Ptosis refers to droopiness of a body part. Specifically, it can refer to:* Ptosis * Ptosis * Enteroptosis * Gastroptosis...

 also have been reported in few patients. Both sexes can be affected.

It has been proposed that Fazio-Londe disease and Brown-Vialetto-Van-Laere syndrome are a phenotypically associated condition.

Prognosis

Onset of first symptom has been reported between 1–12 years, with a mean age of onset at 8 years. Genetic expression is either an autosomal dominant or an autosomal recessive type. Clinical course can be divided into early (< 6 yrs age, predominance of respiratory symptoms) and late course (6–20 years of age, predominance of motor symptoms on superior limbs). Progression to involve other cranial nerve muscles occurs over a period of months or years. In the Gomez review facial nerve was affected in all cases while hypoglossal nerve was involved in all except one case. Other cranial nerves involved were vagus, trigeminal, spinal accessory nerve, abducent, occulomotor and glossopharyngeal in this order. Corticospinal tract signs were found in 2 of the 14 patients.

The disease may progress to patient's death in a period as short as 9 months or may have a slow evolution or may show plateaus. Post mortem examination of cases have found depletion of nerve cells in the nuclei of cranial nerves. The histologic alterations found in patient with Fazio-Londe disease were identical to those seen in Werdnig-Hoffman syndrome. Fazio-Londe disease, infantile progressive spinal muscular atrophy (Werdnig-Hoffman syndrome), Juvenile progressive spinal muscular atrophy (Kugelberg-Welander disease), Brown-Vialetto-Van Laere syndrome

Brown-Vialetto-Van Laere syndrome

The Brown-Vialetto-Van Laere syndrome , sometimes better known as Brown's Syndrome, is an exceptionally rare neurological disorder of unknown cause, characterized primarily by deafness and paralysis of the muscles of the face, neck, shoulders and limbs...

 (BVVL) and the juvenile type of slowly progressive bulbar palsy, all have been considered variants of chronic progressive disease

Progressive disease

Progressive disease is a physical ailment whose natural course in most cases is the worsening, growth, or spread of the disease. This may happen until death, serious debility, or organ failure occurs. Though the time distinctions are imprecise, diseases can be rapidly progressive or slowly...

 of lower motor neuron

Motor neuron

In vertebrates, the term motor neuron classically applies to neurons located in the central nervous system that project their axons outside the CNS and directly or indirectly control muscles...

s.

To date, there is no test of confirmation for Fazio-Londe disease, although researchers are currently searching to isolate the responsible gene.http://www.bvvlinternational.org

History

Berger, in 1876, first reported a case of 12-year-old child with progressive bulbar paralysis. From India, Reddy and Murthy first reported a Fazio-Londe disease case in 1982. Until now only 31 cases have been published in the literature.