Fazio–Londe disease

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Obesity, Sleep & Internal medicine
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Fazio–Londe disease
Synonyms	Progressive bulbar palsy of childhood
Pronounce	N/A
Specialty	Neurology
Symptoms	Dysphagia, dysarthria, facial weakness, respiratory failure
Complications	N/A
Onset	Childhood
Duration	Progressive
Types	N/A
Causes	Genetic mutations in the SLC52A3 gene
Risks	Family history of the disease
Diagnosis	Genetic testing, clinical examination
Differential diagnosis	Amyotrophic lateral sclerosis, Kennedy disease
Prevention	N/A
Treatment	Supportive care, respiratory support
Medication	N/A
Prognosis	Variable, often poor
Frequency	Rare
Deaths	N/A

Fazio–Londe disease is a rare, inherited neurological condition. It is also known as progressive bulbar palsy of childhood. The disease is characterized by progressive weakness and wasting (atrophy) of the muscles that control movement (motor neurons).

Symptoms

The symptoms of Fazio-Londe disease typically begin in childhood or adolescence. The most common initial symptoms are difficulty speaking (dysarthria) and difficulty swallowing (dysphagia). As the disease progresses, it affects the muscles of the face, throat, and tongue, leading to additional problems with speech, chewing, and swallowing.

Causes

Fazio-Londe disease is caused by mutations in the SLC52A3 gene. This gene provides instructions for making a protein that is involved in the transport of certain vitamins into cells. Mutations in the SLC52A3 gene disrupt this transport, which can lead to the death of motor neurons.

Diagnosis

Diagnosis of Fazio-Londe disease is based on the clinical symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Genetic testing can confirm a diagnosis.

Treatment

There is currently no cure for Fazio-Londe disease. Treatment is symptomatic and supportive. Physical therapy, occupational therapy, and speech therapy may be beneficial.

Prognosis

The prognosis for individuals with Fazio-Londe disease varies. Some individuals have a normal life span with slow disease progression. Others may experience serious complications such as respiratory failure.

See also

• Motor neuron disease
• Genetic disorder
• Neurological disorder

References

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