Menkes disease

Menkes Disease

Menkes Disease (pronounced MEN-keez) is a rare, X-linked recessive disorder that affects the body's ability to regulate copper levels. It is named after the pediatric neurologist, Dr. John Hans Menkes, who first described the condition in 1962.

Etymology

The term "Menkes Disease" is derived from the name of Dr. John Hans Menkes, who first identified and described the condition. The disease is also known as Menkes syndrome, kinky hair disease, and trichopoliodystrophy.

Definition

Menkes Disease is a genetic disorder that affects copper levels in the body, leading to copper deficiency. This deficiency can affect the structure and function of various body systems, particularly the nervous system.

Symptoms

The symptoms of Menkes Disease typically appear in infancy and may include poor growth, weak muscle tone (hypotonia), seizures, and developmental delay. Distinctive physical characteristics may include kinky hair that is easily broken and has a silvery sheen, as well as pale, sagging skin.

Causes

Menkes Disease is caused by mutations in the ATP7A gene. This gene provides instructions for making a protein that is essential for regulating copper levels in the body. When the ATP7A gene is mutated, copper is not distributed properly, leading to a deficiency in certain areas of the body and an excess in others.

Diagnosis

Diagnosis of Menkes Disease is based on clinical examination, the presence of characteristic symptoms, and confirmed by genetic testing. The testing can identify mutations in the ATP7A gene.

Treatment

There is currently no cure for Menkes Disease. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy, medication for seizures, and supplementation with copper.

Prognosis

The prognosis for individuals with Menkes Disease is generally poor, with most children not surviving past the age of three. However, early detection and intervention can improve the prognosis in some cases.

Related Terms

• ATP7A gene
• Copper
• Genetic disorder
• Hypotonia
• Seizures
• X-linked recessive inheritance

External links

• Medical encyclopedia article on Menkes disease
• Wikipedia's article - Menkes disease

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