Steely Hair Disease, also known as Menkes disease or Menkes syndrome, is a rare and severe genetic disorder that primarily affects males. It is characterized by abnormally kinky or coarse hair that resembles steel wool, hence the term "steely hair." This disorder is caused by a mutation in the ATP7A gene, which is responsible for the transportation and regulation of copper within the body.
The abnormalities associated with Steely Hair Disease extend beyond hair texture. Individuals with this condition often exhibit developmental delays, intellectual disability, poor muscle tone (hypotonia), and a range of neurological symptoms. These neurological symptoms may include seizures, abnormal eye movements, and reduced body temperature regulation. Additionally, affected individuals may experience weak or brittle bones, as well as skeletal abnormalities.
Steely Hair Disease is typically diagnosed in early infancy due to the noticeable hair abnormalities, but in milder cases, it may go undetected until later childhood. Early diagnosis is crucial as this disorder can lead to severe health complications if left untreated.
There is currently no cure for Steely Hair Disease, and treatment mainly focuses on managing the symptoms and improving the quality of life. This often involves copper supplementation to correct the copper deficiency and specialized therapies, such as physical and occupational therapy, to address developmental delays and improve motor skills.
Due to its rarity and complexity, Steely Hair Disease requires a multidisciplinary approach involving various medical specialists, such as geneticists, neurologists, and pediatricians. Genetic counseling is also essential for affected families to understand the inheritance pattern and provide support.
