hereditary sensory and autonomic neuropathy type 7

Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a rare genetic condition that affects the nervous system, causing a range of symptoms.

Main Features:

• Inability to feel pain: One of the primary characteristics of HSAN7 is the inability to feel pain, which can lead to recurrent injuries and self-inflicted wounds [4].
• Excessive sweating (hyperhidrosis): Individuals with HSAN7 often experience excessive sweating, particularly in response to emotional stimuli or physical activity [5][11].
• Gastrointestinal issues: Gastrointestinal problems are common in people with HSAN

Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a rare genetic disorder characterized by several distinct signs and symptoms.

Primary Signs and Symptoms:

• Congenital absence of pain sensation: People with HSAN7 are born without the ability to feel pain, which can lead to repeated, severe injuries.
• Recurrent injuries and self-inflicted wounds: The inability to feel pain often results in frequent bone fractures, joint dislocations, and other types of injuries.
• Slow healing: Individuals with HSAN7 may experience delayed or impaired wound healing, putting them at risk for further complications such as infection.

Additional Symptoms:

• Excessive sweating (hyperhidrosis): People with HSAN7 often exhibit excessive sweating, which can cause itching and discomfort.
• Gastrointestinal issues: Some individuals with HSAN7 may experience gastrointestinal problems, including constipation or diarrhea due to intestinal dysmotility.
• Severe pruritis: In some cases, people with HSAN7 may experience severe itching sensations.

Age of Onset: Signs and symptoms of HSAN7 typically appear at birth or during infancy. Early diagnosis is crucial for proper management and treatment.

References: [1] [2] [3] [4] [5] [6] [7] [8] [9] [10]

Hereditary sensory and autonomic neuropathy type 7 (HSAN7) can be diagnosed through various diagnostic tests, which are essential for confirming the condition and ruling out other potential causes.

• Electrophysiologic studies: These studies show primarily axonal sensory and often motor peripheral neuropathy, supporting the diagnosis of HSAN. [1]
• Genetic testing: A genetic diagnosis is identified in approximately 20-33% of individuals with HSAN, including those with HSAN7. The Invitae Hereditary Sensory and Autonomic Neuropathy Panel analyzes genes associated with hereditary sensory and autonomic neuropathies (HSANs). [2][8]
• Comprehensive neuropathy panel: This panel analyzes 20 genes, including the most common genetic causes of Hereditary Sensory and Autonomic Neuropathy (HSAN), such as SCN11A gene mutation. [3][7]

It's worth noting that a diagnosis of HSAN7 is often made based on a combination of clinical features, electrophysiologic studies, and genetic testing results.

References: [1] - #6 [2] - #2 [3] - #9 [7] - #7

Treatment Options for Hereditary Sensory and Autonomic Neuropathy Type 7 (HSAN7)

Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a rare genetic condition that affects the nervous system, causing a congenital absence of pain sensation. While there are no specific treatments available to cure HSAN7, various treatment options can help manage its symptoms and prevent complications.

Preventing Injuries

One of the primary goals of treatment for HSAN7 is to prevent injuries caused by the lack of pain sensation. This can be achieved through:

• Pain-free wound care: Regular monitoring and proper wound care can help prevent infections and promote healing.
• Protective measures: Taking precautions such as wearing protective gear, using assistive devices, and modifying environments can reduce the risk of injury.

Managing Gastrointestinal Issues

Gastrointestinal issues are a common symptom of HSAN7. Treatment may involve:

• Medications: Managing symptoms such as constipation or diarrhea through medications.
• Dietary modifications: Making changes to diet to manage gastrointestinal issues.

Orthopedic Problems

HSAN7 can also lead to orthopedic problems, such as painless fractures. Treatment may include:

• Bracing and support: Using bracing and supportive devices to prevent further injury.
• Surgical interventions: In some cases, surgical intervention may be necessary to repair or stabilize bones.

Other Treatments

While there are no specific treatments approved for HSAN7, other conditions with similar symptoms have been treated with:

• Naloxone: A medication that has been shown to reverse analgesia in some cases.
• Gene therapies: Although not specifically approved for HSAN7, gene therapies may be explored as a potential treatment option in the future.

Current Research and Future Directions

Research is ongoing to better understand HSAN7 and develop effective treatments. Currently, no gene therapies are available for varieties of HSAN, including HSAN7. However, studies on other conditions with similar symptoms may provide valuable insights into potential treatment options.

References:

• [3] - A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances.
• [9] - Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with ...
• [10] - Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues.
• [12] - Treatment Most treatment options available for HSAN IV are targeted at treating associated conditions. However, a drug by the name Naloxone, has been shown to reverse analgesia in some cases [7].
• [15] - by Y Chen — Other drugs including ascorbic acid, creatine, curcumin, and ubiquinone were helpful in rodent models with no demonstrable clinical benefit. Gene therapies are ...

Hereditary Sensory and Autonomic Neuropathy (HSAN) Type 7, also known as Congenital Insensitivity to Pain with Anhidrosis (CIPA), is a rare genetic disorder. When considering the differential diagnosis for HSAN Type 7, several conditions should be taken into account.

• Aromatic L-amino acid decarboxylase deficiency: This condition presents with similar symptoms to HSAN Type 7, including anhidrosis and insensitivity to pain.
• Autonomic dysreflexia syndrome in spinal injuries: Although this condition is not directly related to genetic disorders like HSAN Type 7, it can present with similar autonomic dysfunction symptoms.

It's essential to note that a comprehensive diagnosis of HSAN Type 7 requires careful clinical assessment and laboratory testing. Electrophysiologic studies or nerve biopsy may also be necessary to confirm the diagnosis.

According to [2], HSAN Type 7 is an autosomal dominantly inherited disorder due to a mutation in the SCN11A gene, which leads to congenital insensitivity to pain. This information can help differentiate it from other conditions that may present with similar symptoms.

In addition, [5] mentions that the diagnosis of HSAN requires careful clinical assessment, judicious laboratory testing, and electrodiagnostic studies or nerve biopsy if necessary. This highlights the importance of a thorough diagnostic approach when considering differential diagnoses for HSAN Type 7.

References: [2] - Oct 1, 2024 — HSAN type 7 is an autosomal dominantly inherited disorder due to a mutation in the SCN11A gene. [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 ...