hereditary sensory neuropathy type 1B

Hereditary sensory neuropathy type 1B (HSAN1B) is a rare genetic disorder characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux disease [2]. This condition affects the nerves, leading to various symptoms such as:

• Distal sensory loss: A gradual decline in sensation in the distal parts of the body, including the legs and feet.
• Autonomic disturbances: Abnormalities in the autonomic nervous system, which can affect various bodily functions such as heart rate, digestion, and blood pressure.

It's worth noting that HSAN1B is a distinct subtype of hereditary sensory neuropathy type 1 (HSN1), which is characterized by prominent predominantly distal sensory loss and autonomic disturbances in some patients [3]. The symptoms of HSAN1B typically begin in the late teens, and the diagnosis is made through genetic testing.

In addition to these symptoms, people with HSAN1 may also experience hearing loss caused by abnormalities of the

Hereditary Sensory Neuropathy Type 1 (HSAN1) is a rare genetic disorder that affects the nerves, leading to various symptoms. Based on the available information, here are some common signs and symptoms associated with HSAN1:

• Muscle Weakness and Wasting: Variable distal muscle weakness and wasting are characteristic of HSAN1 [5]. This can lead to difficulties in performing daily activities.
• Chronic Skin Ulcers: Chronic skin ulcers are a hallmark feature of HSAN1 [5]. These ulcers can be painful and may take a long time to heal.
• Autonomic Features: Autonomic features, such as sweating disturbances, are invariably observed in individuals with HSAN1 [4, 5].
• Sensory Symptoms: Some patients experience positive symptoms of severe shooting, burning, and lancinating pain in the limbs or even in the trunk [6]. Others may have prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and temperature.
• Hearing Loss: Hearing loss is a common complication of HSAN1, caused by abnormalities of the inner ear (sensorineural hearing loss) [8].
• Cognitive Decline: Some individuals with HSAN1 may experience cognitive decline or dementia [7, 9].
• Other Symptoms: Additional symptoms can include throat clearing, a hoarse voice, and sensorineural hearing loss [2]. In severe cases, the cough may be so severe that it leads to syncope (fainting) and retinal detachment.

It's essential to note that specific symptoms can vary widely from one person to another, and not everyone with HSAN1 will experience all of these symptoms. If you suspect you or a family member has this condition, consult a healthcare professional for proper diagnosis and treatment.

Hereditary sensory neuropathy type 1B (HSAN1B) is a rare genetic disorder characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux. Diagnostic tests for HSAN1B can confirm a diagnosis in some people.

Molecular Genetic Testing Molecular genetic testing can detect mutations in specific genes known to cause HSAN1B, but it is not always possible to confirm the diagnosis through this method alone [3]. The test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 23 genes associated with hereditary sensory neuropathy [2].

Gene-Targeted Testing Gene-targeted testing can also be used to diagnose HSAN1B. This type of testing involves analyzing specific genes known to cause the condition, such as SPTLC1 [5]. However, molecular genetic testing approaches can include a combination of gene-targeted testing and comprehensive testing.

Comprehensive Genetic Testing Comprehensive genetic testing can detect mutations in multiple genes associated with hereditary sensory neuropathy. This type of testing is useful for diagnosing HSAN1B when the clinical presentation is unclear [6].

Other Diagnostic Tests In addition to molecular genetic testing, other diagnostic tests such as nerve conduction studies and family history can be used to diagnose specific inherited peripheral neuropathies, including HSAN1B [6]. However, these tests are not always definitive and may require further investigation.

The following tests are available for diagnosing hereditary sensory neuropathy type 1B:

• Invitae Comprehensive Neuropathies Panel: This test analyzes genes associated with hereditary neuropathies, including but not limited to HSAN1B [9].
• GeneDx Charcot-Marie-Tooth Disease Test: This test analyzes DNA from a blood sample for variants in genes associated with Charcot-Marie-Tooth disease, which includes HSAN1B [8].

It's worth noting that diagnostic tests for HSAN1B are not always definitive and may require further investigation. A comprehensive evaluation by a qualified healthcare professional is necessary to confirm the diagnosis.

References:

[2] This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 23 genes associated with hereditary sensory neuropathy. [3] Molecular genetic testing can confirm a diagnosis in some people. [5] Gene-targeted testing can also be used to diagnose HSAN1B. This type of testing involves analyzing specific genes known to cause the condition, such as SPTLC1. [6] In addition to molecular genetic testing, other diagnostic tests such as nerve conduction studies and family history can be used to diagnose specific inherited peripheral neuropathies, including HSAN1B. [8] GeneDx will extract DNA from the blood sample and analyze it by searching for variants in a number of genes associated with Charcot-Marie-Tooth, distal hereditary motor neuropathy, and other related conditions. [9] Test description​​ The Invitae Comprehensive Neuropathies Panel analyzes genes that are associated with hereditary neuropathies, including but not limited to HSAN1B.

Current Drug Treatments for Hereditary Sensory Neuropathy Type 1B

Unfortunately, there is currently no known pharmacological treatment to specifically target hereditary sensory and autonomic neuropathy type 1B (HSAN1B). However, symptomatic treatments such as physiotherapy, analgesics, or surgery may be used to manage the symptoms of this condition [9].

Research on L-Serine Supplementation

Some research has been conducted on the potential benefits of l-serine supplementation in treating hereditary sensory autonomic neuropathy type 1 (HSAN1), which is a related condition. A study published in 2017 found that oral l-serine supplementation reduced production of neurotoxic deoxysphingolipids in mice and humans with HSAN1 [5]. However, it's essential to note that this research was not specifically focused on HSAN1B.

General Treatment Approaches

For inherited neuropathies like HSAN1B, the management relies mostly on symptomatic treatments. This may include:

• Physiotherapy to maintain muscle strength and mobility
• Analgesics to manage pain
• Surgery in some cases to address specific symptoms or complications [9]

It's crucial to consult with a healthcare professional for personalized advice and treatment planning.

References: [5] - Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. [9] - by M Hustinx · 2023 · Cited by 1 — The management of inherited neuropathies relies mostly on symptomatic treatments such as physiotherapy, analgesics, or surgery.

Hereditary sensory neuropathy type 1B (HSN1B) is a rare genetic disorder that affects the nerves, leading to progressive distal sensory loss and other symptoms. When considering the differential diagnosis for HSN1B, it's essential to rule out other hereditary sensory and autonomic neuropathies (HSAN), as well as other conditions that may present with similar symptoms.

According to medical literature [2], the differential diagnosis of HSN1B includes:

• Other HSAN types, such as HSAN II
• Diabetic foot syndrome
• Charcot-Marie-Tooth disease (CMT)
• Hereditary sensory neuropathy type I (HSN1)

In addition to these conditions, a thorough clinical assessment and electrodiagnostic studies or nerve biopsy may be necessary to confirm the diagnosis of HSN1B [5].

It's also worth noting that a positive family history can help elucidate the inheritance pattern and make CMT more likely [7]. However, a detailed pedigree analysis is crucial to differentiate between various forms of neuropathy.

The symptoms of HSN1B may include distal sensory loss, foot ulcers, preservation of facial sensation, muscle wasting, and muscle weakness. A careful evaluation of these symptoms in conjunction with the patient's medical history and family history can help guide the differential diagnosis [6].

References:

[2] M Auer-Grumbach · 2008 · Cited by 100 — Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), especially HSAN II, as well as diabetic foot syndrome, ...

[5] by H AZHARY · 2010 · Cited by 277 — The diagnosis requires careful clinical assessment, judicious laboratory testing, and electrodiagnostic studies or nerve biopsy if the diagnosis is unclear.

[6] Oct 1, 2024 — HSAN type 1 is associated with distal sensory loss, foot ulcers, preservation of facial sensation, muscle wasting, muscle weakness, neural symptoms.

[7] Apr 17, 2023 — The differential diagnosis of neuropathy is wide. A positive family history makes CMT likely, and a pedigree can help elucidate the inheritance pattern.