autosomal dominant familial visceral neuropathy

Autosomal dominant familial visceral neuropathy, also known as Familial Visceral Neuropathy-3 (VSCN3), is a rare genetic disorder that affects the gastrointestinal system.

Key Features:

• Inheritance Pattern: Autosomal dominant, meaning a single copy of the mutated gene is enough to cause the condition.
• Gastrointestinal Symptoms: Affected individuals experience esophageal dysmotility and chronic intestinal pseudoobstruction due to abnormalities in the intestinal myenteric plexus.
• Radiographic Findings: Distinct involvement of the jejunum and ileum, as defined radiographically.

Other Forms:

• Autosomal recessive familial visceral neuropathy-2 (VSCN2) is caused by a mutation in the ERBB2 gene on chromosome 17q12.
• Visceral neuropathy, familial, 1, autosomal recessive (VSCN1) is a genetic disorder marked by intestinal dysmotility and developmental anomalies affecting both neural crest and extraneural crest structures.

References:

• [6] Familial visceral neuropathy-3 (VSCN3) is an autosomal dominant disorder in which affected individuals experience gastrointestinal symptoms, including esophageal dysmotility and chronic intestinal pseudoobstruction, due to abnormalities of the intestinal myenteric plexus.
• [9] Visceral neuropathy, familial, 1, autosomal recessive (VSCN1) is a genetic disorder marked by a wide range of developmental anomalies affecting both neural crest and extraneural crest structures.

Autosomal dominant familial visceral neuropathy, also known as Familial Visceral Neuropathy-3 (VSCN3), is a rare genetic disorder that affects the autonomic nervous system. The symptoms of this condition can vary in severity and may include:

• Gastrointestinal symptoms:
  • Abdominal distention (swelling)
  • Pain
  • Nausea
  • Vomiting
  • Changes in bowel habits (constipation or diarrhea) [1][3][4]
• Other symptoms:
  • Early satiety (feeling full quickly after eating)
  • Dysphagia (difficulty swallowing)

It's worth noting that the symptoms of autosomal dominant familial visceral neuropathy can be similar to those of other conditions, such as inflammatory bowel disease. A proper diagnosis by a healthcare professional is necessary for an accurate assessment and treatment plan.

References: [1] Familial Visceral Neuropathy-3 (VSCN3) is an autosomal dominant disorder in which affected individuals experience gastrointestinal symptoms... [3] This buildup can cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. [4] This can result in symptoms such as abdominal swelling, pain, nausea, vomiting, and changes in bowel habits.

Based on the provided context, here are the diagnostic tests for autosomal dominant familial visceral neuropathy:

• Electromyogram (EMG) and biopsy (e.g., rectal): These tests can confirm the diagnosis by showing the presence of extracellular amyloid deposits using Congo red staining [6].
• Special staining techniques: These may be required to diagnose this disorder, which is often transmitted over multiple generations in an autosomal dominant pattern [4].

It's worth noting that genetic testing may also be available for this condition, as mentioned in search result 8. However, the specific tests and their availability are not specified.

References: [4] EA Mayer · 1986 · Cited by 64 [6] EA Mayer · 1986 · Cited by 64

Autosomal dominant familial visceral neuropathy, also known as familial visceral neuropathy-3 (VSCN3), is a rare genetic disorder that affects the nerves in the gastrointestinal tract.

Current Drug Treatments:

While there are no specific drugs approved for the treatment of autosomal dominant familial visceral neuropathy, several medications have been studied and used to manage its symptoms. These include:

• Patisiran: This RNAi drug has been approved by the FDA for the treatment of polyneuropathy caused by hereditary transthyretin amyloidosis (hATTR), a condition that can also affect the gastrointestinal tract [7]. While not specifically approved for VSCN3, patisiran may be considered as an off-label treatment option.
• Inotersen: Another RNAi drug, inotersen has been approved by the FDA for the treatment of hATTR amyloidosis. Like patisiran, it may be considered as a potential treatment option for VSCN3 [7].
• Vutrisiran: This siRNA drug has also been approved by the FDA for the treatment of hATTR amyloidosis. It is designed to target and reduce the production of transthyretin protein, which can accumulate in the body and cause disease [7].

Other Treatment Options:

In addition to these RNAi drugs, other treatment options may be considered on a case-by-case basis, including:

• Symptomatic management: This involves managing the symptoms of VSCN3, such as abdominal pain, constipation, or diarrhea, through medications and lifestyle changes.
• Nutritional support: Patients with VSCN3 may require nutritional support to manage malabsorption and weight loss.

Future Research Directions:

There is a need for further research into the pathophysiology of neonatal POI (pseudomyxoma peritonei) and its treatment options. Studies exploring the immune and enteric systems in neonates are essential to develop effective treatments for this condition [10].

References:

[7] Aug 15, 2022 - Several drugs (ie, patisiran, inotersen, vutrisiran) have been approved by the FDA for treatment of polyneuropathy caused by hereditary transthyretin amyloidosis. [8] Familial visceral neuropathy-3 (VSCN3) is an autosomal dominant disorder in which affected individuals experience gastrointestinal symptoms... [10] There is a gap in the literature in studies exploring neonatal POI pathophysiology and treatment options.

Based on the provided context, it appears that there are several disorders associated with autosomal dominant inheritance and onset at birth or early childhood. Here's a possible differential diagnosis for autosomal dominant familial visceral neuropathy:

• HSAN1C: This disorder is caused by heterozygous mutation in the SPTLC2 gene and is inherited in an autosomal dominant manner [7]. The neuropathy is phenotypically similar to other forms of hereditary sensory and autonomic neuropathies (HSANs).
• Familial Intestinal Degenerative Neuropathy (FIDN): This condition occurs as a familial form of intestinal degenerative neuropathy without extra-intestinal involvement [8]. The genetics behind FIDN are unknown, but it is possible that it could be related to autosomal dominant inheritance.
• HSAN II: While HSAN II is inherited in an autosomal recessive manner, its phenotypic presentation may overlap with other forms of HSANs, including those with autosomal dominant inheritance [10].

Other conditions that may need to be considered in the differential diagnosis include:

• Autosomal Recessive Familial Visceral Neuropathy-1 (VSCN1): This disorder is characterized by a broad spectrum of developmental anomalies associating neural crest and enteric nervous system development, but its inheritance pattern is autosomal recessive [1-3].
• Familial Visceral Neuropathy (FVN): This condition is a heterogeneous group of disorders due to abnormalities of the myenteric plexus, including FVN with neuronal intranuclear inclusions [5].

It's essential to note that these conditions may have overlapping symptoms and phenotypic presentations, making differential diagnosis challenging. A comprehensive evaluation, including genetic testing and clinical assessment, is necessary to determine the correct diagnosis.

References: [1-3] Context results 1-3 [7] Context result 7 [8] Context result 8 [10] Context result 10