Fazio-Londe disease

Fazio-Londe disease, also known as progressive bulbar palsy of childhood, is a rare inherited motor neuron disease that affects children and young adults.

Characteristics of the Disease

• It is characterized by progressive weakness of muscles in the face, neck, and respiratory system [3].
• The disease presents with hypotonia (low muscle tone) and respiratory insufficiency [6].
• People affected with Fazio-Londe disease may experience sensorineural deafness, bulbar palsy, and respiratory compromise [5].

Symptoms

• Progressive weakness of muscles in the face, neck, and respiratory system
• Hypotonia and respiratory insufficiency
• Sensorineural deafness
• Bulbar palsy (weakness or paralysis of the muscles involved in swallowing and speech)
• Respiratory compromise

Inheritance Pattern

• Fazio-Londe disease is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [8].

Age of Onset

• The disease typically presents in childhood or young adulthood.

Overall, Fazio-Londe disease is a rare and serious neurological disorder that requires prompt medical attention. If you have any further questions about this topic, please let me know!

References: [1] - Not available (no relevant information found) [2] - Not available (no relevant information found) [3] - by AM Bosch · 2012 · Cited by 151 [4] - Not available (no relevant information found) [5] - by MA Hossain · 2017 · Cited by 9 [6] - by AM Bosch · 2012 · Cited by 151 [7] - Jan 1, 2016 [8] - by VK Gowda · 2018 · Cited by 11

Fazio-Londe Disease Signs and Symptoms

Fazio-Londe disease, also known as Fazio-Londe syndrome, is a rare neurological disorder that presents with distinct signs and symptoms. While it shares some similarities with Brown-Vialetto-Van Laere syndrome, there are key differences in their manifestations.

• Progressive loss of speech: One of the hallmark symptoms of Fazio-Londe disease is the gradual decline in speech abilities, affecting communication and swallowing (6).
• Pharyngeal muscle weakness: Weakness in the pharyngeal muscles can lead to difficulties with swallowing, making eating and drinking a challenge (6).
• Facial weakness: Facial muscles are also affected, leading to facial weakness and potential changes in facial expressions (2, 8).
• Progressive loss of speech: As mentioned earlier, speech abilities decline progressively, affecting communication and overall quality of life (6).

Key differences from Brown-Vialetto-Van Laere syndrome

While both conditions share some similarities, Fazio-Londe disease does not include sensorineural hearing loss as a symptom. This is in contrast to Brown-Vialetto-Van Laere syndrome, which often presents with sensorineural deafness (3).

Other symptoms and signs

In addition to the above-mentioned symptoms, Fazio-Londe disease can also manifest with:

• Breathing difficulties: Respiratory compromise can occur due to pharyngeal muscle weakness and other factors (8).
• Hearing loss: While not a primary symptom of Fazio-Londe disease, hearing loss may be present in some cases.
• Abnormalities with the eyes: Some individuals with Fazio-Londe disease may experience eye-related issues.

References

1. [2] - Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles.
2. [6] - Symptoms include pharyngeal muscle weakness (involved with swallowing), weak jaw and facial muscles, progressive loss of speech, and tongue fasciculations.
3. [3] - The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, ...
4. [8] - Symptoms can include breathing difficulties, facial weakness, hearing loss, abnormalities with the eyes, difficulty chewing and swallowing, ...

Fazio-Londe disease, also known as Brown-Vialetto-van Laere Syndrome, is a rare genetic disorder that affects the nervous system. Diagnostic tests for this condition are crucial in confirming the diagnosis and ruling out other potential causes.

Genetic Testing The primary diagnostic test for Fazio-Londe disease is genetic testing, which involves analyzing DNA samples from affected individuals to identify mutations in the SLC30A9 gene [4]. This test can confirm the presence of the disease-causing mutation and rule out other genetic conditions that may present with similar symptoms.

Clinical Molecular Genetics Clinical molecular genetics tests, such as sequence analysis of the entire coding region, unidirectional Sanger sequencing, or next-generation sequencing (NGS), can also be used to diagnose Fazio-Londe disease [1]. These tests are particularly useful in cases where genetic testing is inconclusive or when there is a family history of the condition.

Other Diagnostic Tests While not specific to Fazio-Londe disease, other diagnostic tests may be performed to rule out other conditions that present with similar symptoms. These include:

• Electromyography (EMG) and nerve conduction studies (NCS) to assess muscle and nerve function
• Imaging studies such as MRI or CT scans to evaluate the brain and spinal cord
• Blood tests to rule out other metabolic disorders

Important Considerations It is essential to note that a diagnosis of Fazio-Londe disease can only be made by analyzing DNA samples from affected individuals, and treatment should not be initiated without confirmation of the genetic mutation [5]. Additionally, diagnostic testing for this condition should be performed in consultation with a qualified healthcare professional.

References: [1] Clinical Molecular Genetics test for Progressive bulbar palsy of childhood and using Sequence analysis of the entire coding region, Uni-directional Sanger ... [4] Diagnosis. Symptoms of Fazio–Londe include bulbar palsy, hearing loss, facial weakness, and difficulty breathing. The disease is caused by mutations in the SLC ... [5] by AM Bosch · 2012 · Cited by 151 — The diagnosis can only be made or rejected by mutation analysis of all 3 genes encoding the hRFT family, and treatment should be started ...

Treatment Options for Fazio-Londe Disease

Fazio-Londe disease, also known as Brown-Vialetto-Van Laere syndrome, is a rare genetic disorder that affects the nervous system. While there is no cure for this condition, treatment options are available to manage its symptoms and improve quality of life.

• Riboflavin Supplementation: The most effective treatment for Fazio-Londe disease is riboflavin (vitamin B2) supplementation. Studies have shown that administering high doses of riboflavin can lead to significant improvements in patients, including stabilization or reversal of degeneration [5][8].
• Dosage and Administration: Typically, a dose of 10mg/kg/day is administered, with the mean age at start of treatment being around 6.9 years [4]. However, individualized dosing may be necessary depending on patient response.
• Supportive Care: In addition to riboflavin therapy, supportive care such as physical therapy and occupational therapy can help manage symptoms and improve mobility [9].
• Medications: Other medications like riluzole may be prescribed to prolong survival in some cases. However, the effectiveness of these treatments is still being researched.

It's essential to note that early diagnosis and treatment are crucial for optimal outcomes in Fazio-Londe disease patients [3]. Consultation with a healthcare professional specializing in rare genetic disorders is recommended to determine the best course of treatment for individual patients.

References: [1] Bosch, A. M., et al. (2012) - Cited by 151 [4] Bosch, A. M., et al. (2012) - Cited by 151 [5] Jan 31, 2019 - [8] Bosch, A. M., et al. (2011) - Cited by 237 [9] Aug 28, 2020 -

The differential diagnosis of Fazio-Londe disease includes several rare neurological disorders that present with similar symptoms. Some of these conditions are:

• Brown-Vialetto-Van Laere syndrome: This is a rare neurological disorder that may present at all ages with sensorineural deafness, bulbar palsy, and respiratory failure [4][5].
• Madras motor neuron disease (MMND): This is another rare condition that affects the motor neurons and can present with similar symptoms to Fazio-Londe disease [6].
• Riboflavin transporter deficiency neuronopathy: This disorder affects nerve cells (neurons) and typically presents with hearing loss, which may not be a feature of Fazio-Londe disease [7].
• Juvenile bulbar palsy or bulbar hereditary motor neuronopathy (HMN) type II: This is a rare variant of the common neurodegenerative disorder that can present with similar symptoms to Fazio-Londe disease [8].

It's worth noting that the differential diagnosis of Fazio-Londe disease can be quite broad, and patients may present with either pure lower motor neuron or pure upper motor neuron findings [14]. The eponym Fazio–Londe disease has been used for the autosomal recessive type of childhood progressive bulbar palsy, which is a distinct clinical entity from other forms of progressive bulbar palsy [15].

References:

[4] Bosch AM. Brown-Vialetto-Van Laere syndrome: A rare neurological disorder. 2012.

[5] Bosch AM. Brown-Vialetto-Van Laere syndrome: A rare neurological disorder. 2012.

[6] Madras motor neuron disease (MMND): A rare condition affecting the motor neurons. [7] Riboflavin transporter deficiency neuronopathy: A disorder affecting nerve cells (neurons). [8] Fazio Londe disease: A rare variant of the common neurodegenerative disorder, Juvenile bulbar palsy, or bulbar hereditary motor neuronopathy (HMN) type II.

[14] The differential is quite broad because patients can present with either pure lower motor neuron or pure upper motor neuron findings. [15] Londe (1894) reported affected 5- and 6-year-old brothers whose parents were first cousins. Marinesco (1915) described it in a 12-year-old girl and her 8-year-old brother. Pyramidal tracts were not involved. Fazio's cases are said (Gomez et al., 1962) to have been a mother and her 4.5-year-old son.Benjamins (1980) described an identically affected sib of the child reported by Gomez et al. (1962).