Who gets it?
Menkes disease occurs in people of all ethnic backgrounds. The gene involved is on the X (female) chromosome, so males are usually the ones affected by the disorder. Females who carry the gene defect generally do not have symptoms unless certain other unusual genetic circumstances are present. Menkes disease is estimated to occur anywhere from 1 individual per 100,000 live births to 1 in 250,000 live births.
There are many variations of Menkes disease, and symptoms may range from mild to severe. The severe or classic form has distinctive symptoms, usually beginning at age 2-3 months:
- Loss of developmental milestones - for example, the baby is no longer able to hold a rattle
- Muscles become weak and "floppy" (low muscle tone)
- Poor growth
- Scalp hair is short, sparse, coarse, and twisted (resembles wire) and may be white or gray
- Face has sagging cheeks and pronounced jowls
Babies born with classic Menkes disease appear normal at birth, including their hair. When the baby is 2-3 months old, things start to change, and the parents begin to suspect something is wrong. In the milder forms, symptoms may not appear until the child is older. Females who carry the defective gene may have twisted hair, but not always.
- Copper and ceruloplasmin levels in blood, after the child is 6 weeks old (not diagnostic before then) - levels will be low
- Copper levels in the placenta - will be high, and can diagnose newborns
- Catechol levels in blood and cerebrospinal fluid (CSF) - abnormal in Menkes disease even in a newborn
- Skin biopsy can test copper metabolism
- Microscopic examination of hair will show Menkes abnormalities
Logically, it would seem that if copper could get to the cells and organs that need it, the disorder would be lessened. Researchers have tried giving intramuscular injections of copper, with mixed results. It does seem that the earlier in the course of the disease that the injections are given, the more positive the results. Milder forms of the disease respond well, but the severe form does not show much change. This form of therapy, as well as others, is still be investigated.
Treatment is also focused on relieving the symptoms. In addition to medical specialists, physical and occupational therapy can help maximize potential. A nutritionist will recommend a high-calorie diet, often with supplements added to baby formula. Genetic screening of the individual's family will identify carriers and provide counseling and guidance on recurrence risks (1 in 4 for each pregnancy).
Information for this article was taken from:
Kaler, S. G. (2002). Menkes kinky hair disease. eMedicine, accessed at http://www.emedicine.com/ped/topc1417.htm