hereditary sensory and autonomic neuropathy type 2A

Hereditary Sensory and Autonomic Neuropathy Type 2A (HSAN2A) is a rare genetic disorder that primarily affects the nerves responsible for sensation and autonomic functions.

Characteristics:

• Age of onset: Symptoms typically appear in infancy or early childhood [6].
• Autosomal recessive inheritance: HSAN2A is caused by biallelic mutations, meaning an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition [5][8].
• Sensory impairment: Affected individuals experience reduced sensation to pain, temperature, and touch [3][4].
• Autonomic dysfunction: HSAN2A can also lead to autonomic nervous system dysfunction, affecting various bodily functions such as heart rate, digestion, and blood pressure.

Symptoms:

• Numbness in the hands and feet is often one of the first signs of the condition [1][4].
• As the disease progresses, individuals may lose the ability to feel pain or sense hot and cold temperatures.
• Other symptoms can include impaired autonomic functions, such as changes in heart rate, blood pressure, or digestion.

References:

[1] Apr 1, 2017 — The first sign of the condition is usually numbness in the hands and feet. Soon after, affected individuals lose the ability to feel pain or sense hot and cold. [3] Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. [4] The first sign of the condition is usually numbness in the hands and feet. Soon after, affected individuals lose the ability to feel pain or sense hot and cold. [5] by L Shekhar · 2024 — Hereditary sensory & autonomic neuropathy type 2A (HSAN2A) is a rare paediatric-onset autosomal recessive disorder. It is primarily caused by biallelic mutations. [6] HSAN2A is an autosomal recessive disorder with symptoms appearing in infancy or early childhood, including pain, temperature, and touch sensation impairment, ... [8] by L Shekhar · 2024 — Hereditary sensory & autonomic neuropathy type 2A (HSAN2A) is a rare paediatric-onset autosomal recessive disorder. It is primarily caused by biallelic mutations.

Hereditary sensory and autonomic neuropathy type 2A (HSAN2A) is a rare genetic disorder that primarily affects the sensory nerve cells, leading to various signs and symptoms. The condition typically manifests in infancy or early childhood.

Key Signs and Symptoms:

• Sensory Loss: Impairment of pain, temperature, and touch sensation, which can be progressive and predominantly distal (affecting the lower limbs more severely than the upper limbs) [11][13].
• Numbness: The first sign of the condition is usually numbness in the hands and feet [8][14].
• Loss of Pain and Temperature Sensation: Affected individuals lose the ability to feel pain or sense hot and cold soon after the onset of numbness [6][8][14].
• Reduced Sweating: Autonomic disturbance, if present, appears as anhidrosis (a sweating abnormality) [3].

Other Symptoms:

• Pain Impairment: Pain sensation is often impaired or absent in individuals with HSAN2A.
• Charcot Neuroarthropathy: A condition characterized by joint and bone damage due to repeated trauma and neuropathic changes, commonly affecting the ankles and feet.

It's essential to note that the symptoms of HSAN2A can vary in severity and progression among affected individuals. Early diagnosis and management are crucial for preventing complications and improving quality of life.

References: [3] - Autonomic disturbance, if present, appears as anhidrosis, a sweating abnormality. [6] - The first sign of the condition is usually numbness in the hands and feet. Soon after, affected individuals lose the ability to feel pain or sense hot and cold. [8] - The first sign of the condition is usually numbness in the hands and feet. Soon after, affected individuals lose the ability to feel pain or sense hot and cold. [11] - HSAN2A is an autosomal recessive disorder with symptoms appearing in infancy or early childhood, including pain, temperature, and touch sensation impairment... [13] - Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. [14] - The first sign of the condition is usually numbness in the hands and feet. Soon after, affected individuals lose the ability to feel pain or sense hot and cold.

Hereditary Sensory and Autonomic Neuropathy (HSAN) type 2A is a rare genetic disorder that affects the nerves, causing progressive sensory and motor symptoms. Diagnostic tests for HSAN type 2A are crucial in confirming the diagnosis and ruling out other conditions.

Electrophysiologic Studies Electrophysiologic studies, such as electromyography (EMG) and nerve conduction studies (NCS), can show primarily axonal sensory and often motor peripheral neuropathy, supporting the diagnosis of HSAN [9]. These tests measure the electrical activity of muscles and nerves, helping to identify abnormalities in nerve function.

Molecular Genetic Testing Molecular genetic testing is a key diagnostic tool for HSAN type 2A. This test can detect variants in the specific genes known to cause HSAN2, such as MFN2 [4]. The Invitae Hereditary Sensory and Autonomic Neuropathy Panel analyzes genes associated with hereditary sensory and autonomic neuropathies (HSANs), including those that cause HSAN type 2A [2].

Comprehensive Neuropathies Panel The Invitae Comprehensive Neuropathies Panel is another diagnostic test that can help identify the genetic cause of HSAN type 2A. This panel analyzes genes associated with hereditary neuropathies, including but not limited to those that cause HSAN type 2A [8].

Clinical Tests and Molecular Genetics There are 37 clinical tests available for this condition, which include molecular genetics tests that can confirm a diagnosis of HSAN type 2A [3]. These tests can help identify the specific genetic variant causing the disorder.

The most common subtype of CMT2 is CMT2A, which accounts for approximately 20% of CMT2 cases and is associated with variants in the MFN2 gene [6].

In conclusion, diagnostic tests for HSAN type 2A include electrophysiologic studies, molecular genetic testing, the Comprehensive Neuropathies Panel, and clinical tests. These tests can help confirm the diagnosis and identify the specific genetic cause of the disorder.

References: [1] Apr 1, 2017 — Affected individuals may also have weak deep-tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer. [2] The Invitae Hereditary Sensory and Autonomic Neuropathy Panel analyze genes associated with hereditary sensory and autonomic neuropathies (HSANs). [3] 37 tests are in the database for this condition. Check Related conditions for additional relevant tests. Clinical tests (37 available). Molecular Genetics Tests. [4] Molecular genetic testing can confirm a diagnosis. Molecular genetic testing can detect variants in the specific genes known to cause HSAN2. [5] Candidates for this test are patients with clinical symptoms consistent with sensory and autonomic neuropathy. [6] Mar 1, 2024 — The most common subtype of CMT2 is CMT2A, which accounts for approximately 20% of CMT2 cases and is associated with variants in the MFN2 gene. [7] A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation ... [8] The Invitae Comprehensive Neuropathies Panel analyzes genes that are associated with hereditary neuropathies, including but not limited to ... [9] The diagnosis of HSAN is supported by electrophysiologic studies that show primarily axonal sensory and often motor peripheral neuropathy. Together, these ...

Based on the provided context, it appears that there are limited treatment options available for Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2). However, some potential treatments have been explored in small trials.

• Exercise: Small trials of exercise have been performed, but none showed significant benefit [4].
• Creatine: Creatine supplementation has also been studied, but its effectiveness is unclear [4].
• Purified brain gangliosides: Another study investigated the use of purified brain gangliosides, but it did not show any significant improvement [4].
• Orthoses: Orthotic devices have been used to manage symptoms, particularly in patients with distal sensory loss and muscle wasting [12].

It's essential to note that these treatments are not specifically tailored for HSAN2A, and more research is needed to determine their efficacy.

Medication Summary

While there isn't a specific medication listed as a treatment for HSAN2A, some medications may be used to manage symptoms such as pain and inflammation. For example:

• Nonsteroidal anti-inflammatory drugs (NSAIDs): These medications can help alleviate pain and reduce inflammation [5].
• Ibuprofen: This NSAID has been mentioned in the context as a potential treatment for managing pain [5].

However, it's crucial to consult with a healthcare professional for personalized advice on medication management.

Current Management

The management of inherited neuropathies, including HSAN2A, relies mostly on symptomatic treatments such as physiotherapy, analgesics, or surgery [9]. A comprehensive treatment plan should be developed in consultation with a healthcare professional to address the specific needs of each patient.

References:

[4] Small trials of exercise, creatine, purified brain gangliosides, and orthoses have been performed. None showed significant benefit. [5] Medication Summary · Nonsteroidal anti-inflammatory drugs (NSAIDS) · Class Summary · Ibuprofen (Motrin, Ibuprin) [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 and Autonomic Neuropathy Type 2 (HSAN2) has a differential diagnosis that includes other hereditary sensory and autonomic neuropathies (HSAN), as well as diabetic foot and Charcot neuroarthropathy of ankles and feet.

• Other HSANs: The differential diagnosis of HSAN2A includes other types of hereditary sensory and autonomic neuropathies, such as HSAN I, which is characterized by a similar presentation but with a later onset [8].
• Diabetic foot: Diabetic foot is another condition that can be considered in the differential diagnosis of HSAN2A. It is characterized by neuropathy and peripheral artery disease leading to foot ulcers and amputations [9].
• Charcot neuroarthropathy: Charcot neuroarthropathy, also known as neuropathic arthropathy, is a condition that can be considered in the differential diagnosis of HSAN2A. It is characterized by joint destruction and deformity due to sensory loss and autonomic dysfunction [6].

It's worth noting that a positive family history can help elucidate the inheritance pattern and make certain conditions more likely, such as Charcot-Marie-Tooth disease (CMT) [10]. A pedigree can be helpful in determining the inheritance pattern of HSAN2A.

References: [6] by S Sachan · 2023 · Cited by 1 — [8] by M Auer-Grumbach · 2008 · Cited by 100 — [9] Apr 17, 2023 — [10] Apr 17, 2023 —