What is Menkes disease (kinky hair syndrome) and how does it affect the musculoskeletal system?
Menkes disease (mild form formerly called Ehlers–Danlos IX) is a rare (1 in 300,000 individuals) X-linked recessive disorder of copper metabolism in which the clinical abnormalities are primarily neurologic and include seizures, abnormal reflexes, spasticity, and mental retardation. Patients also have occipital horns and pili torti (beaded, brittle, and sparse silver hair). Abnormal copper metabolism caused by a malfunction of ATPase-dependent transport of copper ( ATP7A gene) results in poor copper distribution to cells. This lack of copper affects copper-requiring metalloenzymes (lysyl hydroxylase) involved in collagen and elastin synthesis, thereby affecting connective tissues. The rheumatic manifestations may be similar to those in either cutis laxa or Ehlers–Danlos syndrome, with highly extensible skin and joints. Death and disability occur early in life if the patient is not treated with injectable copper supplementation which may be of some benefit if started early.
