Lundberg syndrome

Overview

What is polyneuropathy, intellectual disability, acromicria, premature menopause syndrome?

Hereditary polyneuropathy, intellectual disability, acromicria, and premature menopause syndrome is also known as Lundberg syndrome, named after the physician who first described the condition in 1971. Polyneuropathy refers to damage or disease affecting the peripheral nerves of the body. The peripheral nerves are responsible for connecting the brain and spinal cord to the rest of the body. Intellectual disability refers to decreased mental capacity and limitations in intellectual functioning and adaptive behavior (previously known as mental retardation and also referred to as "oligophrenia"). The term "acromicria" refers to abnormal smallness of the limbs (including hands and feet) and smallness of the face; the bones are small and delicate in nature. Premature menopause refers to menopause occurring before expected (the average age for women being around 51 years).

Polyneuropathy intellectual disability acromicria premature menopause syndrome, also known as Lundberg syndrome, is a very rare genetic syndrome characterized mainly by premature menopause, slow nerve signals, mental retardation, small delicate facial bones, unusual gait (manner of walking), short fingers, and skeletal muscle weakness and atrophy (muscle wasting away).

This disorder is thought to be inherited in an autosomal recessive manner, meaning that a child must inherit two non-working copies of the same gene in order to show the symptoms associated with Lundberg syndrome. One non-working copy of the gene must be inherited from each parent. If the parents do not show any signs of or have a diagnosis of Lundberg syndrome, they must have one working copy of the gene and one non-working copy, meaning they are carriers for Lundberg syndrome. With every pregnancy these parents conceive, a 25% chance would exist for that child to inherit both non-working copies of the gene and have Lundberg syndrome. At this time, no gene has been identified as causing Lundberg syndrome when a mutation is present. The inheritance pattern suggested comes from the study of a few families with Lundberg syndrome. The possibility of polygenic (multiple genes) inheritance has also been suggested. More research is needed to clarify the specific gene cause(s) of Lundberg syndrome and the inheritance pattern.

At this time, there is no specific treatment for Lundberg syndrome. Treatment is focused on managing the symptoms and medical issues that occur for individuals with Lundberg syndrome.

To be evaluated for Lundberg syndrome, please visit the ACMG website to locate a medical geneticist.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/lundberg-syndrome/overview/19152 • DATE UPDATED: 2016-06-15

References

Lundberg, P.O. "Hereditary Polyneuropathy, Oligophrenia, Premature Menopause and Acromicria. A New Syndrome". Europ. Neurol. 1971; 5(2):84-98.

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