Hereditary Sensory Neuropathy Type 2C (HSAN2C) is a rare genetic disorder that primarily affects the sensory nerve cells, leading to progressive distal sensory loss.

Characteristics:

• Age of onset: Typically begins in the first decade of life.
• Progression: Gradual and progressive distal sensory loss, which can lead to ulceration and amputation of affected limbs.
• Sensory involvement: Large and small fiber nerves are affected, resulting in profound and universal sensory loss.

Key features:

• Autosomal recessive inheritance: HSAN2C 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.
• Sensory dysfunction: The disorder is characterized by sensory dysfunction, including loss of pain and temperature sensation.

References:

• [6] HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of affected limbs.
• [8] Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves.

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What are the benefits of using a standing desk?

The benefits of using a standing desk include reduced back pain, improved posture, and increased energy levels. Standing desks have become increasingly popular in recent years due to their numerous health benefits.

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The benefits of using a standing desk are numerous, but it's essential to note that they may not be suitable for everyone. Some people may experience discomfort or pain when using a standing desk, especially if they have pre-existing back problems.

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Hereditary sensory neuropathy type 2C (HSAN2C) is a rare genetic disorder that affects the nerves and can cause various symptoms such as numbness, pain, and weakness in different parts of the body. Diagnostic tests for HSAN2C are crucial to confirm the diagnosis and rule out other conditions.

Common diagnostic tests for HSAN2C:

• Nerve conduction studies: These tests measure the speed and strength of electrical signals traveling through nerves. In individuals with HSAN2C, nerve conduction velocities may be slow or reduced [1].
• Electromyogram (EMG): This test measures the electrical activity of muscles to determine if there is any damage to muscle tissue.
• Genetic testing: Genetic tests can identify specific genetic mutations associated with HSAN2C. These tests are usually performed on a blood sample and can detect single nucleotide variants or copy number variations in genes related to hereditary sensory neuropathy [4][10].
• Clinical presentation: A thorough medical history, physical examination, and family history are essential for diagnosing HSAN2C. Symptoms such as numbness, pain, and weakness in different parts of the body can be indicative of this condition [3].

Other diagnostic tests:

• Axonal flare test: This test involves injecting a small amount of diluted histamine under the skin to assess nerve function.
• Invitae Hereditary Sensory and Autonomic Neuropathy Panel: This genetic testing panel analyzes genes associated with hereditary sensory and autonomic neuropathies (HSANs), which can help diagnose specific inherited peripheral neuropathies [6].

References:

[1] - Slow sensory conduction velocities and amplitudes are indicative of nerve damage in HSAN2C patients. [3] - Numbness, pain, and weakness in different parts of the body are common symptoms of HSAN2C. [4] - Genetic testing can identify specific genetic mutations associated with HSAN2C. [6] - The Invitae Hereditary Sensory and Autonomic Neuropathy Panel analyzes genes associated with hereditary sensory and autonomic neuropathies (HSANs). [10] - This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 87 genes associated with hereditary motor and sensory neuropathy.

Based on the available information, it appears that there are limited treatment options for Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2), also known as Hereditary Motor and Sensory Neuropathy Type 2C.

Current Treatment Options:

• There is no effective pharmacological treatment for HSAN2 [9].
• Among the many causes of hereditary neuropathies, dominant mutations in serine palmitoyltransferase are one of them, but there is no specific treatment mentioned for this particular mutation [9].

Experimental and Investigational Treatments:

• Gene silencing and gene replacement therapies are currently being explored as potential treatments for HSAN2, although they are still in the preclinical testing phase [3].
• Small molecule treatments are also being investigated for HSAN2, but no specific details are available on these treatments [3].

Other Considerations:

• Nonsteroidal anti-inflammatory drugs (NSAIDs) may be used to manage symptoms such as pain and inflammation, although they are not a specific treatment for HSAN2 [5].
• Consultation with a healthcare professional is recommended for medical advice and treatment [1].

It's essential to note that the information available on HSAN2 is limited, and more research is needed to understand the disease and develop effective treatments. If you or someone you know has been diagnosed with HSAN2, it's crucial to consult with a healthcare professional for personalized guidance and care.

References:

[1] Context result 1 [3] Context result 3 [5] Context result 5 [9] Context result 9

The differential diagnosis for Hereditary Sensory Neuropathy Type 2 (HSAN2) includes other hereditary sensory and autonomic neuropathies, with the most similar being HSAN types 1 to 5 [1]. In addition to these, diabetic foot syndrome and alcoholic neuropathy are also major differential diagnoses that need to be excluded [10].

To determine the correct diagnosis, careful clinical assessment is necessary, along with judicious laboratory testing and electrodiagnostic studies or nerve biopsy if required [7]. A positive family history can help elucidate the inheritance pattern of the condition, making it more likely to be a hereditary neuropathy such as Charcot-Marie-Tooth (CMT) disease [8].

It's worth noting that HSANs have been classified into at least 8 different disorder types based on their genetic and clinical findings, with some patients not falling into any specific category [9]. Therefore, a comprehensive evaluation of the patient's symptoms, medical history, and laboratory results is essential to arrive at an accurate diagnosis.

References: [1] Context result 2 [7] Context result 7 [8] Context result 8 [9] Context result 9 [10] Context result 10