The most common symptoms of Menkes disease include:
- Sparse, kinky hair. When examined under a microscope, the hair of someone with Menkes shows a pattern of twisting and splitting that is specific to the condition.
- Failure to thrive. Health care providers use this term to describe an infant who does not gain weight and grow as expected despite normal feeding and nutrition.
- Deterioration of the nervous system. The body uses copper to make myelin, an important insulator in the nervous system. Without copper, the nervous system does not function well, and continues deteriorating over time.
After a period of typical development in the two to three months following birth, infants with Menkes disease begin to lose developmental skills.
Other symptoms may include:
- Weak muscle tone (called hypotonia) and sagging facial features
- Lower-than-normal body temperature
- Weakened bones that can result in fractures
- Pudgy, rosy cheeks
- Bone spurs (bony growths that form near or in the joints)
- Feeding difficulties
- Skeletal changes1,2
The severity of symptoms depends on the type of genetic mutation a person has. People who have mutations that completely stop copper transport and storage usually have more severe symptoms.
Without treatment, usually in the form of copper injections, Menkes disease can cause death by the time a child is 3 years old.
- National Library of Medicine, Genetics Home Reference. (2009). Menkes syndrome. Retrieved May 22, 2012, from http://ghr.nlm.nih.gov/condition/menkes-syndrome
- National Library of Medicine, MedlinePlus. (2011). Menkes syndrome. Retrieved May 21, 2012, from http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm