Hereditary sensory and autonomic neuropathy type V

Alternate names

Congenital insensitivity to pain and thermal analgesia; HSAN5; Hereditary sensory and autonomic neuropathy type 5; Neuropathy, hereditary sensory and autonomic, type V ; HSAN V; INSENSITIVITY TO PAIN, CONGENITAL

Definition

Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch.

Cause

HSAN5 is caused by changes (mutations) in the NGF gene.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Signs and symptoms

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 the inability to feel deep pain, affected people suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 30%-79% of people have these symptoms

• Abnormality of the dentition(Abnormal dentition)
• Abnormality of the gingiva(Abnormality of the gums)
• Anhidrosis(Lack of sweating)
• Decreased number of small peripheral myelinated nerve fibers
• Deeply set eye(Deep set eye)
• Impaired temperature sensation(Abnormality of temperature sensation)
• Intellectual disability, mild(Mild mental retardation)
• Malar flattening(Zygomatic flattening)
• Pain insensitivity
• Painless fractures due to injury
• Poor wound healing

5%-29% of people have these symptoms

• Recurrent fever(Episodic fever)

Diagnosis

Molecular Genetics Tests may includeː

• Targeted variant analysis
• Sequence analysis of the entire coding region
• Deletion/duplication analysis

Treatment

Medical management is based on the signs and symptoms present in each person and is oriented to control hyperthermia (elevated body temperature) and prevent injury.

NIH genetic and rare disease info

• NIH info on Hereditary sensory and autonomic neuropathy type V

Hereditary sensory and autonomic neuropathy type V is a rare disease.

Hereditary sensory and autonomic neuropathy type V Resources
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