hereditary sensory and autonomic neuropathy type 6

Hereditary sensory and autonomic neuropathy type 6 (HSAN6), also known as familial dysautonomia with contractures, is a severe autosomal recessive disorder characterized by:

• Neonatal hypotonia
• Respiratory and feeding difficulties
• Lack of psychomotor development
• Autonomic abnormalities including labile cardiovascular function, lack of corneal reflex, and impaired sweating [1][2]

This condition is caused by mutations in the human dystonin gene (DST) [9]. The symptoms of HSAN6 can vary, but they often include:

• Hypotonia in infancy
• Variable psychomotor retardation
• Markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes [7]
• Altered sweating patterns

HSAN6 is a rare genetic disorder that affects the nervous system, and it can have significant implications for an individual's quality of life.

Hereditary Sensory and Autonomic Neuropathy (HSAN) Type 6, also known as HSAN VI, is a rare genetic disorder characterized by severe symptoms that manifest at birth or in early infancy.

Common Signs and Symptoms:

• Neonatal Hypotonia: Weakness or floppiness of the muscles in newborns, making it difficult to feed and breathe.
• Respiratory and Feeding Difficulties: Infants with HSAN VI often experience respiratory problems, such as aspiration pneumonia, and feeding difficulties due to swallowing issues.
• Lack of Psychomotor Development: Children with this condition may not develop normally, showing delays in physical and mental growth.
• Impaired Pain Sensitivity: Individuals with HSAN VI have a significantly reduced ability to feel pain, which can lead to injuries and infections going unnoticed.

Additional Symptoms:

• Swallowing problems
• Aspiration pneumonia
• Hypothermia (low body temperature)
• Developmental delay
• Loss of touch and vibration in the feet
• Dysesthesia (abnormal sensations) and severe panmodal sensory loss in the upper and lower limbs

These symptoms are often present at birth or become apparent in early infancy, highlighting the importance of early diagnosis and intervention for individuals with HSAN VI.

References:

[1] - Characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and ... (Source: #4) [2] - The severity of the signs and symptoms of HSAN IE and ... (Source: #2) [3] - Hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity. (Source: #3) [6] - Swallowing problems, aspiration pneumonia, hypothermia, developmental delay, lack of ... (Source: #6)

Hereditary sensory and autonomic neuropathy type 6 (HSAN6) is a severe autosomal recessive disorder that can be challenging to diagnose. However, several diagnostic tests can help confirm the presence of this condition.

• Nerve Conduction Studies (NCS)/Needle Electromyography (EMG): These studies can help identify abnormalities in nerve function and muscle activity, which are characteristic of HSAN6 [10].
• Genetic Testing: Genetic testing can be performed to detect mutations in the dystonin gene (DST), which is associated with HSAN6. This test can be ordered through various labs around the world [1], including those in the US [8].
• Clinical Evaluation: A thorough clinical evaluation by a specialist, such as a neurologist or geneticist, is essential to diagnose HSAN6. This involves assessing symptoms, medical history, and performing physical examinations.

It's worth noting that early diagnosis of HSAN6 can be difficult due to its rarity and the fact that it often presents with non-specific symptoms in infancy [4]. However, prompt recognition and referral to a specialist can lead to accurate diagnosis and management of this condition.

Hereditary Sensory and Autonomic Neuropathy Type 6 (HSAN6) is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and other symptoms [1]. While there is currently no specific pharmacological treatment for HSAN6, researchers have been exploring various options to manage its symptoms.

According to recent studies, several drugs have been approved by the FDA for the treatment of polyneuropathy caused by hereditary sensory and autonomic neuropathies, including HSAN [5]. These include:

• Patisiran: a RNA-targeting therapy that has shown promise in treating various forms of polyneuropathy, including those caused by hereditary sensory and autonomic neuropathies [5].
• Inotersen: an antisense oligonucleotide that targets the transthyretin gene, which is associated with some forms of polyneuropathy [5].
• Vutrisiran: a RNA-targeting therapy that has been approved for the treatment of polyneuropathy caused by hereditary transthyretin amyloidosis, a condition similar to HSAN6 [5].

Additionally, researchers have identified several other potential therapeutic targets for HSAN6, including gene therapies and small molecule inhibitors [4]. However, more research is needed to fully understand the efficacy and safety of these treatments in humans.

It's worth noting that treatment options for HSAN6 are still evolving, and patients may require a multidisciplinary approach to manage their symptoms. Consultation with a healthcare professional is essential to determine the best course of treatment for individual cases [3].

References: [1] Context result 1 [2] Context result 2 [5] Context result 5

Hereditary sensory and autonomic neuropathy (HSAN) type 6, also known as HSAN VI, is a rare genetic disorder characterized by neonatal hypotonia, among other symptoms. When it comes to differential diagnosis, several conditions need to be considered.

• Multiple System Atrophy: This condition can present with similar symptoms to HSAN VI, including autonomic dysfunction and sensory loss. However, MSA typically affects older adults, whereas HSAN VI is inherited in an autosomal recessive manner and often presents in infancy [2].
• Parkinson-Plus Syndromes: These conditions, such as Progressive Supranuclear Palsy (PSP), can also present with autonomic dysfunction and sensory loss. However, PSP typically affects older adults and has distinct clinical features that differentiate it from HSAN VI [5].
• Progressive Supranuclear Palsy: As mentioned earlier, PSP is a condition that affects older adults and presents with distinct clinical features, such as supranuclear gaze palsy, which is not characteristic of HSAN VI.
• Other Hereditary Sensory and Autonomic Neuropathies (HSAN): Conditions like HSAN II can present with similar symptoms to HSAN VI, including sensory loss and autonomic dysfunction. However, the genetic basis and clinical features of these conditions differ from those of HSAN VI [9].
• Diabetic Foot: This condition can also present with sensory loss and autonomic dysfunction, but it is typically associated with diabetes mellitus and has distinct clinical features that differentiate it from HSAN VI.

In terms of diagnostic criteria, careful clinical assessment, judicious laboratory testing, and electrodiagnostic studies or nerve biopsy are essential for diagnosing HSAN VI [8]. The diagnosis requires a comprehensive evaluation of the patient's symptoms, medical history, and genetic background to rule out other conditions with similar presentations.