1. What is Menkes disease?
An X-linked, neurodegenerative disease of impaired copper transport to the body’s cells. 30% cases are spontaneous mutations while 70% are inherited
2. What are other names for Menkes disease?
Menkes Kinky Hair disease, Menkes syndrome, Steely Hair disease, Copper Transport disease
3. How is Menkes disease diagnosed?
Blood testing of copper levels, skin biopsy and hair sampling
4. Are there milder variants of Menkes disease?
Yes, Occipital Horn syndrome, which is also known as X-linked cutis laxa or Ehlers-Danlas type 9.
5. What is the prognosis for Menkes disease?
Very poor, it is a terminal disease with most babies passing within the first decade of their lives.
6. Are there treatments?
Early subcutaneous (under the skin) injections, intravenous (in a vein) injections, or intramuscularly (in the muscle) of copper supplements may be of some benefit. Other treatments remain symptomatic and supportive.
7. What genes are related to Menkes disease?
A mutation of the ATP7A gene causes Menkes disease.
8. What are common signs and symptoms of Menkes disease?
Not meeting developmental milestones (exhibited around 3 months of age), kinky twisted coarse hair, seizures, feeding intolerance, respiratory difficulties, bladder infections secondary to diverticula’s, frequent bone fractures secondary to connective tissue impairments, heart arrhythmia’s secondary to widening of the aortic valve, bowel elimination secondary to toric (twisting) intestines, low body temperature, pale pigmented skin color.
9. Who is affected?
Male infants are primarily affected, while females are the carriers. In rare cases a female can exhibit symptoms of the disease. All ethnic groups have been affected. Disease occurs in 1 in 100,000 to 250,000 live births.
10. How are symptoms treated?
Anti-seizure medications, pain medication, feeding tube when necessary (nasalgastric or gastronomy tube), Physical and occupational therapy to maximize potential.