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Signs & Symptoms of Menkes Disease

Menkes disease occurs in babies and is caused by a gene that affects the metabolism of copper by the body, according to the National Institute of Neurological Disorders and Stroke. Infants with the condition may not show signs and symptoms immediately. Babies may develop normally for the first several weeks of life.

  1. Kinky Hair

    • One of the most noticeable signs of the disease is the unusual color and texture of the hair. Menkes Disease causes the hair to be the color of steel or have no color at all. The texture of the hair is kinky and tends to break easily.

    Seizures

    • Babies with Menkes Disease often experience seizures. The disease causes degeneration of the gray matter in the brain. Early detection of Menkes is difficult because the symptoms do not manifest immediately. The symptoms of the disorder can also be subtle, according to the National Institute of Neurological Disorders and Stroke.

    Failure to Thrive

    • Infants with Menkes Disease fail to grow and thrive once the symptoms begin to manifest. Developmental skills attained during the first months of life are lost as well. Muscle tone deteriorates with Menkes Disease.

      The prognosis for infants with Menkes Disease is bleak. Children usually do not survive past the first 10 years of life, and many do not live beyond the first year of life. Treatment does not begin soon enough to make an appreciable difference in the prognosis for Menkes Disease patients.

    Osteoporosis

    • Weakening of the bones is common in children with Menkes Disease, according to the National Institute of Neurological Disorders and Stroke. Osteoporosis may cause fractures of the bones in children with the disorder.

    Blocked Arteries

    • The arteries in the brain become blocked, which may cause them to rupture in children with Menkes Disease.

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