Infantile neuroaxonal dystrophy

Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disorder that primarily affects the nervous system. It is characterized by a progressive loss of vision, mental and movement abilities.

Symptoms

The symptoms of INAD usually begin in early infancy, typically between the ages of 6 months and 3 years. Early signs may include delays in physical and mental development, such as sitting, standing, and walking or learning to talk. As the disorder progresses, affected children may lose previously acquired skills (developmental regression), develop an abnormal body posture with the head and neck bent backward (opisthotonus), and become unable to move, eat, and breathe on their own.

Causes

INAD is caused by mutations in the PLA2G6 gene. This gene provides instructions for making an enzyme that is found throughout the body, but is particularly abundant in the brain. The enzyme is involved in the metabolism of certain fats, and it also plays a role in the survival of nerve cells (neurons).

Diagnosis

Diagnosis of INAD is based on the observation of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include magnetic resonance imaging (MRI), nerve conduction studies, and molecular genetic testing.

Treatment

There is currently no cure for INAD, and treatment is symptomatic and supportive. Physical therapy may help to relieve some of the symptoms. In some cases, medication may be used to manage seizures or other symptoms.

Prognosis

The prognosis for individuals with INAD is poor. Most children with this disorder do not survive past childhood, typically living only into the first or second decade of life.

See Also

• Neurodegenerative Disorders
• Genetic Disorders
• PLA2G6-associated neurodegeneration

References

• National Institute of Neurological Disorders and Stroke
• Genetics Home Reference
• National Organization for Rare Disorders

Infantile neuroaxonal dystrophy Resources
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