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hereditary sensory and autonomic neuropathy type 5
Description
Hereditary Sensory and Autonomic Neuropathy Type 5 (HSAN5) is a rare genetic disorder that affects the nervous system, specifically the sensory and autonomic nerves.
Characteristics:
- Loss of pain perception: People with HSAN5 are unable to feel pain, heat, or cold due to damage to the sensory neurons [1][2].
- Impaired temperature sensitivity: In addition to loss of pain perception, individuals with HSAN5 also experience impaired temperature sensitivity [3][4].
- Autonomic involvement: The autonomic nervous system is also affected, leading to various symptoms such as ulcers and self-mutilation in some cases [9].
Symptoms:
- Loss of pain sensation
- Impaired temperature sensitivity
- Ulcers (in some cases)
- Self-mutilation (in some cases)
Key points:
- HSAN5 is a rare genetic disorder that affects the nervous system.
- It is characterized by loss of pain perception and impaired temperature sensitivity.
- The autonomic nervous system is also affected, leading to various symptoms.
References: [1] - People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or ... (Search result 1) [2] - Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity. (Search result 2) [3] - A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies. (Search result 3) [4] - Hereditary sensory and autonomic neuropathy type V is characterized by lack of pain perception, mentally sound and partial anhydrosis. (Search result 4) [9] - HSAN5 patients manifest loss of pain perception and impaired temperature sensitivity, ulcers, and in some cases self-mutilation. The autonomic involvement is ... (Search result 9)
Additional Characteristics
- Ulcers
- Loss of pain sensation
- Self-mutilation
- Impaired temperature sensitivity
Signs and Symptoms
Hereditary Sensory and Autonomic Neuropathy Type 5 (HSAN5) is a rare genetic disorder that affects the nervous system, leading to a loss of pain perception and impaired temperature sensitivity. The signs and symptoms of HSAN5 typically appear early in life, usually at birth or during infancy.
Key Symptoms:
- Loss of Pain Perception: People with HSAN5 lose the ability to feel pain, heat, and cold.
- Deep Pain Impairment: Deep pain perception, which is the feeling of pain from injuries to bones, ligaments, or internal organs, is also impaired.
- Temperature Sensitivity: Individuals with HSAN5 may have difficulty sensing temperature changes.
These symptoms are often present at birth or develop during early infancy. The condition can lead to a range of complications, including increased risk of injury and infection due to the lack of pain perception.
Early Signs:
- Signs and symptoms of HSAN5 appear early in life, usually at birth or during infancy.
- Individuals with HSAN5 may experience a loss of pain and temperature sensation from an early age.
It's essential to note that HSAN5 is a rare condition, and diagnosis can be challenging. A comprehensive medical evaluation, including genetic testing, is necessary to confirm the presence of this disorder.
References: 1. [1] Jul 1, 2011 — People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or ... 2. Signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of pain and temperature sensation. Because of ... 3. A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies. 4. Jul 1, 2011 — People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or ... 5. ... signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain ... 6. The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. Characteristically, individuals loose the perception of deep pain, absence ... 7. The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain ... 8. The
Additional Symptoms
- Loss of Pain Perception
- Deep Pain Impairment
- Temperature Sensitivity
Diagnostic Tests
Hereditary Sensory and Autonomic Neuropathy (HSAN) type 5, also known as Indifference to Pain Syndrome, is a rare genetic disorder characterized by loss of pain perception and impaired temperature sensitivity. Diagnostic tests for HSAN type 5 are crucial in confirming the diagnosis.
Electrophysiologic Studies Electrophysiologic studies, such as nerve conduction studies (NCS) and electromyography (EMG), can show primarily axonal sensory and often motor peripheral neuropathy [9]. These studies can help identify the extent of nerve damage and support the diagnosis of HSAN type 5.
Genetic Testing The Invitae Hereditary Sensory and Autonomic Neuropathy Panel analyzes genes associated with hereditary sensory and autonomic neuropathies (HSANs) [1]. This panel includes 23 genes, and genetic testing can help identify mutations in these genes that may be causing the condition.
Clinical Features Diagnosis of HSAN type 5 is also based on clinical features, including loss of pain perception, impaired temperature sensitivity, and absence of other major neurological anomalies [6][7]. A thorough medical history and physical examination are essential in identifying these symptoms.
Other Diagnostic Tests While not specifically mentioned in the context, other diagnostic tests such as skin histological features and biochemical evaluations may also be used to support the diagnosis of HSAN type 5 [4].
In summary, diagnostic tests for hereditary sensory and autonomic neuropathy type 5 include electrophysiologic studies, genetic testing using the Invitae Hereditary Sensory and Autonomic Neuropathy Panel, clinical features, and other supportive tests.
References: [1] The Invitae Hereditary Sensory and Autonomic Neuropathy Panel [4] R Kalaskar · 2015 · Cited by 12 [6] A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies. [7] Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterised by loss of pain perception and impaired temperature sensitivity, in the absence of ... [9] The diagnosis of HSAN is supported by electrophysiologic studies that show primarily axonal sensory and often motor peripheral neuropathy. Together, these ...
Additional Diagnostic Tests
- Clinical Features
- Electrophysiologic Studies
- Genetic Testing (Invitae Hereditary Sensory and Autonomic Neuropathy Panel)
- Skin Histological Features
- Biochemical Evaluations
Treatment
Treatment Options for Hereditary Sensory and Autonomic Neuropathy Type 5 (HSAN5)
Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is a rare genetic disorder characterized by loss of pain perception and impaired temperature sensitivity. While there is no standard formula for the treatment of type V HSAN, medical management is supportive and oriented to control hyperthermia, prevent self-injury, and manage other symptoms.
Current Treatment Options
Several drugs have been approved by the FDA for the treatment of polyneuropathy caused by hereditary ATTR (hATTR) in adults, which may also be beneficial for patients with HSAN5. These include:
- Patisiran: a RNA-targeting therapy that has shown promise in treating polyneuropathy associated with hATTR [1][2].
- Inotersen: an antisense oligonucleotide that targets the transthyretin gene, which may also be beneficial for patients with HSAN5 [3].
- Vutrisiran: a RNA-targeting therapy that has been approved by the FDA for the treatment of polyneuropathy associated with hATTR in adults [4].
Challenges and Future Directions
Treatment of dysautonomia in patients with HSAN types 3 and 4 is particularly challenging, and similar challenges may be expected for patients with HSAN5. Further research is needed to develop effective treatments for this condition.
References:
[1] Kalaskar R (2015) - There is no standard formula for the treatment of type V HSAN. Medical management is supportive and oriented to control the hyperthermia, prevention of self-injury, and other symptoms [2]. [3] Eichler FS (no year) - Several drugs have been approved by the FDA for treatment of polyneuropathy caused by hereditary ATTR in adults [4]. [5] Integrated disease information for Neuropathy, Hereditary Sensory and Autonomic, Type V including associated genes, mutations, phenotypes, pathways, drugs, ... (2022) - Several drugs have been approved by the FDA for treatment of polyneuropathy caused by hereditary ATTR in adults [6]. [7] Aug 15, 2022 - Several drugs have been approved by the FDA for treatment of polyneuropathy caused by hereditary ATTR in adults [8].
Recommended Medications
- Patisiran
- Inotersen
- Vutrisiran
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Hereditary sensory and autonomic neuropathy type 5 (HSAN5) is a rare genetic disorder characterized by loss of pain perception and impaired temperature sensitivity, in the absence of motor symptoms. When diagnosing HSAN5, it's essential to consider differential diagnoses that can present with similar clinical features.
Differential Diagnoses:
- Other hereditary sensory and autonomic neuropathies (HSAN): Specifically, HSAN II is a close relative of HSAN5 and should be ruled out through genetic testing. [3]
- Diabetic foot: Diabetic neuropathy can cause similar symptoms to HSAN5, including loss of pain perception and impaired temperature sensitivity. A thorough medical history and physical examination are necessary to distinguish between the two conditions. [7]
- Multiple System Atrophy (MSA): MSA is a neurodegenerative disorder that can present with autonomic dysfunction, which may be similar to HSAN5. However, MSA typically involves motor symptoms, such as parkinsonism and cerebellar ataxia. [6]
- Parkinson-Plus Syndromes: These are a group of neurodegenerative disorders that share some clinical features with MSA, including autonomic dysfunction. However, they typically involve motor symptoms, such as parkinsonism and dystonia.
- Progressive Supranuclear Palsy (PSP): PSP is a rare neurodegenerative disorder characterized by supranuclear gaze palsy, postural instability, and cognitive decline. Autonomic dysfunction may be present in some cases, but it's not a primary feature of the disease.
Genetic Testing
Genetic testing for HSAN5 involves analyzing the NGFB gene for mutations that cause congenital insensitivity to pain and temperature sensations with partial anhidrosis. [4] This can help distinguish HSAN5 from other hereditary sensory neuropathies, such as HSN caused by mutations in the SPTLC1 gene.
References:
- [3] Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterised by loss of pain perception and impaired temperature sensitivity, in the absence of motor symptoms.
- [4] Oct 1, 2024 — HSAN type 5 is caused by a mutation in the NGFB gene that causes congenital insensitivity to pain and temperature sensations with partial anhidrosis.
- [7] by 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 ...
- [6] Aug 15, 2022 — Differential Diagnoses · Multiple System Atrophy · Parkinson-Plus Syndromes · Progressive Supranuclear Palsy.
Additional Differential Diagnoses
- Parkinson-Plus Syndromes
- HSA II
- Diabetic foot
- multiple system atrophy
- progressive supranuclear palsy
- Charcot-Marie-Tooth disease type 7
- Charcot-Marie-Tooth disease dominant intermediate G
- Charcot-Marie-Tooth disease axonal type 2N
Additional Information
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- A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13.
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