hereditary sensory neuropathy

Hereditary sensory neuropathies (HSNs) are a group of rare genetic disorders that affect the peripheral nervous system, specifically the sensory nerves. These conditions are characterized by progressive distal sensory loss in the lower limbs, with little to no involvement of the motor nerves [13].

The symptoms of HSNs vary depending on the type, but common features include:

• Numbness or tingling sensations in the hands and feet
• Loss of pain sensation
• Muscle wasting and weakness
• Difficulty walking or maintaining balance
• Foot deformities such as hammertoes and high arches [15]

Hereditary sensory neuropathy type I (HSN1) is a slowly progressive neurological disorder characterized by prominent distal sensory loss, autonomic disturbances, and autosomal dominant inheritance [3]. HSN2 is a rare genetic disorder that usually begins in childhood, affecting the nerves that serve the lower legs and feet and the lower arms and hands [5].

Hereditary sensory neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information from sensory receptors to the central nervous system. This can lead to profound and universal sensory loss involving large and small fiber nerves [9].

Overall, hereditary sensory neuropathies are rare disorders with distinct characteristics, including progressive distal sensory loss, muscle wasting, and difficulty walking or maintaining balance.

References:

• [13] HSNs are rare disorders with progressive distal sensory loss in the lower limbs. They typically affect sensory nerves with little to no involvement of the motor nerves.
• [3] HSN I is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant ...
• [5] HSAN2 is a rare genetic disorder that usually begins in childhood, affecting the nerves that serve the lower legs and feet and the lower arms and hands.
• [9] Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit ...
• [15] Charcot-Marie-Tooth disease results in smaller, weaker muscles. You may also experience loss of sensation and muscle contractions, and difficulty walking. Foot deformities such as hammertoes and high arches also are common.

Hereditary Sensory Neuropathy (HSN) is a rare genetic disorder that affects the nerves, leading to various signs and symptoms. Here are some of the common manifestations:

• Sensory symptoms: Affected individuals may experience numbness, tingling, or pain in their hands and feet [3]. This can be due to loss of sensation in the limbs, making it difficult to feel temperature, touch, or pain [8].
• Motor symptoms: Motor symptoms typically manifest as weakness, muscle wasting, and difficulties with coordination and balance [2]. Affected individuals may have trouble walking, standing, or performing daily activities.
• Muscle contractions: Some people with HSN may experience abnormal muscle contractions, which can be painful [9].
• Loss of sensation: Individuals with HSN often lose the ability to feel pain, temperature, and touch in their limbs. This can lead to injuries or burns without feeling any discomfort [6].
• Muscle weakness: Affected individuals may experience progressive muscle weakness, especially in the hands and feet [5].

It's essential to note that specific symptoms can vary widely from one person to another, and not everyone with HSN will exhibit all of these signs and symptoms. If you or someone you know is experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References: [1] - Not applicable (no relevant information in the context) [2] - Context #2 [3] - Context #3 [5] - Context #5 [6] - Context #6 [8] - Context #8 [9] - Context #9

Hereditary sensory neuropathies are a group of rare genetic disorders that affect the nerves and can cause a range of symptoms, including numbness, pain, and weakness in the hands and feet.

Diagnostic tests for hereditary sensory neuropathy:

• Blood tests: Genetic testing is available to detect mutations in specific genes associated with hereditary sensory neuropathies. This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 23 genes associated with hereditary sensory neuropathy [2].
• Nerve conduction studies: This test measures the speed and strength of electrical signals traveling through nerves, which can help diagnose nerve damage or dysfunction.
• Electromyography (EMG): An EMG is a test that measures the electrical activity of muscles to detect any abnormalities in muscle function.
• Genetic testing: Molecular genetic testing can confirm a diagnosis in some people by detecting mutations in specific genes known to cause hereditary sensory neuropathy [9].
• Nerve function tests: These tests, including nerve conduction studies and EMG, can help diagnose nerve damage or dysfunction.

Other diagnostic tests:

• Physical exam: A physical exam is an essential part of diagnosing hereditary sensory neuropathy. Your doctor will examine your nervous system to look for any signs of nerve damage or dysfunction.
• Review of medical history and symptoms: Your doctor will also review your medical history and symptoms to determine if you have a family history of the condition or other related conditions.

References:

[1] - Hereditary sensory and autonomic neuropathy. The most common type is ... Blood tests for genetic testing; Nerve conduction studies; Nerve ...

[2] - This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 23 genes associated with hereditary sensory neuropathy.

[3] - If a patient presents with CMT2, MFN2 should be screened first, followed by MPZ. If a patient presents with intermediate CMT, GJB1 and MPZ should be screened.

[4] - Diagnosing HSMN involves a combination of a physical exam, review of your medical history and symptoms, and neurological tests and digital imaging. Your ...

[5] - The Invitae Hereditary Sensory and Autonomic Neuropathy Panel analyze genes associated with hereditary sensory and autonomic neuropathies (HSANs).

[6] - This test utilizes-next generation sequencing to detect single nucleotide and copy number variants in 87 genes associated with hereditary motor and sensory ...

[7] - Genetic testing may involve taking blood samples or other tissue samples to identify mutations. Nerve function tests. Electromyography (EMG): A ...

[8] - by GA Nicholson · 2021 · Cited by 17 — Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range ...

[9] - Molecular genetic testing can confirm a diagnosis in some people. Molecular genetic testing can detect mutations in specific genes known to cause HSN1, but ...

Hereditary sensory neuropathies are a group of rare genetic disorders that affect the nerves, leading to various symptoms such as pain, numbness, and weakness in different parts of the body.

Treatment Options

While there is no standard treatment for hereditary sensory neuropathies, several medications have been found to provide relief from symptoms. Here are some of the treatment options:

• Pain management: Over-the-counter pain medications like ibuprofen or naproxen can help manage pain in some individuals [5][7]. Prescription medications such as gabapentin (Gralise, Neurontin, Horizant) and pregabalin (Lyrica), which are typically used to treat epilepsy, have also been found to improve nerve pain in some cases [8].
• Sodium channel blockers: Carbamazepine (Tegretol) is a sodium channel blocker that has been shown to provide substantial or complete relief of pain in 80% of individuals with hereditary sensory neuropathy [3].
• Other treatments: Inotersen, tafamidis, patisiran, and diflunisal have also been found to show significant benefit in high-quality studies for TTR-related amyloid neuropathy [2].

Important Note

It's essential to note that these treatment options may not be effective for everyone with hereditary sensory neuropathies. Treatment aims to relieve symptoms and provide support, as there is no cure for this condition [1].

Hereditary sensory neuropathies (HSNs) are a group of rare genetic disorders that affect the nerves responsible for sensation and motor function. When it comes to differential diagnosis, several conditions need to be considered.

Other Hereditary Sensory and Autonomic Neuropathies

• HSAN II is one of the most similar hereditary sensory and autonomic neuropathies, which can present with similar symptoms to HSN.
• Other forms of HSAN should also be ruled out in the differential diagnosis.

Diabetic Foot Syndrome

• Diabetic foot syndrome is a common condition that affects people with diabetes, causing nerve damage and leading to foot problems.
• It's essential to exclude diabetic foot syndrome as a possible cause of symptoms.

Alcoholic Neuropathy

• Alcoholic neuropathy is another condition that can cause nerve damage, particularly in individuals with a history of heavy alcohol consumption.
• This should be considered in the differential diagnosis, especially if there's a history of substance abuse.

Other Conditions to Consider

• Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the nerves responsible for motor and sensory function.
• Hereditary motor neuropathy (HMN) predominantly affects the motor nerves, whereas HSN primarily affects the sensory nerves.
• There can be overlap in symptoms between these conditions.

Key Points to Consider

• A positive family history makes CMT likely, and a pedigree can help elucidate the inheritance pattern [5].
• The differential diagnosis of neuropathy is wide, so it's essential to consider multiple possibilities [8].

References:

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

[3] M Auer-Grumbach (2008) - The major differential diagnoses are the diabetic foot syndrome and alcoholic neuropathy.

[4] HSN predominantly affects the sensory nerves whereas CMT affects the sensory and motor nerves and HMN predominantly the motor nerves. There is overlap in the ...

[5] 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.

[8] by H AZHARY (2010) - Peripheral neuropathy can be caused by a variety of systemic diseases, toxic exposures, medications, infections, and hereditary disorders (Table ...