Hereditary sensory and autonomic neuropathy 3

Hereditary sensory and autonomic neuropathy 3 (HSAN3), also known as Riley-Day syndrome or Familial dysautonomia, is a rare genetic disorder that primarily affects the nervous system. It is characterized by insensitivity to pain, temperature, and touch, along with a variety of other symptoms.

Symptoms

The symptoms of HSAN3 typically become apparent in infancy or early childhood. These may include difficulty feeding, recurrent pneumonia, insensitivity to pain and temperature, and inability to produce tears. As the child grows, they may also develop poor muscle tone (hypotonia), hand tremors, and difficulty with coordination and balance (ataxia). In some cases, individuals with HSAN3 may also have a reduced ability to sense changes in their body position (proprioception) and may experience abnormal curvature of the spine (scoliosis).

Causes

HSAN3 is caused by mutations in the IKBKAP gene. This gene provides instructions for making a protein that is involved in the development and survival of nerve cells, particularly those in the autonomic nervous system. Mutations in the IKBKAP gene disrupt the normal function of these nerve cells, leading to the symptoms of HSAN3.

Diagnosis

Diagnosis of HSAN3 is based on the presence of characteristic symptoms, a family history of the disorder, and genetic testing to identify a mutation in the IKBKAP gene.

Treatment

There is currently no cure for HSAN3, and treatment is focused on managing symptoms and improving quality of life. This may involve physical therapy, occupational therapy, and medications to manage pain and other symptoms.

Prognosis

The prognosis for individuals with HSAN3 varies. Some individuals may have a normal lifespan with appropriate management of symptoms, while others may experience life-threatening complications such as pneumonia or other infections.

See also

• Hereditary sensory and autonomic neuropathy
• Autonomic neuropathy
• Genetic disorder
• IKBKAP

NIH genetic and rare disease info

• NIH info on Hereditary sensory and autonomic neuropathy 3

Hereditary sensory and autonomic neuropathy 3 is a rare disease.

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