Can someone with tuberous sclerosis have children?

If you have tuberous sclerosis, you have up to a 50 percent chance of passing the condition to your biological children. Severity of the condition may vary. A parent with tuberous sclerosis may have a child who has a milder or more severe form of the disorder.

Is tuberous sclerosis inherited?

In cases where TSC is inherited, only one parent needs to have the faulty gene in order to pass it on to a child (called autosomal dominant inheritance). If a parent has TSC, each child has a 50 percent chance of developing the disorder.

What does tuberous sclerosis look like?

Most people with tuberous sclerosis have patches of light-colored skin, or they may develop small, harmless areas of thickened, smooth skin or reddish bumps under or around the nails. Facial growths that begin in childhood and resemble acne also are common.

How do you test for tuberous sclerosis?

Diagnosis of the disorder is based on a careful clinical exam in combination with computed tomography (CT) or magnetic resonance imaging (MRI) of the brain—which may show tubers in the brain, and an ultrasound of the heart, liver, and kidneys, which may show tumors in those organs.

How do you know if you have tuberous sclerosis?

How is metachromatic leukodystrophy a recessive disease?

Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected.

What are the symptoms of Metachromatic leukodystrophy ( GTR )?

Summary. The disease course may be from three to ten or more years in the late-infantile form and up to 20 years or more in the juvenile and adult forms. Late-infantile MLD. Onset is between ages one and two years. Typical presenting findings include weakness, hypotonia, clumsiness, frequent falls, toe walking, and slurred speech.

Who is at risk for metachromatic leukodystrophy ( MLD )?

Diagnosis. If someone has a family history of metachromatic leukodystrophy (MLD) or someone is known to be a carrier for MLD, individuals who are biologically related to the affected individual or carrier are at risk to be a carrier. Generally speaking, the more closely related an individual is to the affected individual or carrier,…

How long does it take for metachromatic leukodystrophy to develop?

This form typically progresses over approximately 5 to 10 years. [3] Most children with the infantile form die by age 5. [2] The juvenile form, with onset between the age of 4 and adolescence, has a slower progression than the late infantile form and symptoms may develop over 10 to 20 years; death typically occurs 10 to 20 years following onset.