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23 And Me - MedlinePlus Genetics

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Last Updated: 10 May 2022

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D-bifunctional protein deficiency

D-bifunctional protein deficiency is a disorder that causes neural system function deficiency that appears in infanthood. Poor muscle tone and seizures have been present in newborns with D-bifunctional protein deficiency. As the illness progresses, affected children's reflexes, increased muscle tone, more frequent and recurrent seizures, and loss of vision and hearing have become more apparent. Most children with D-bifunctional protein deficiency do not live past the age of 2. Individuals with D-bifunctional protein deficiency may have a high forehead, widely spaced eyes, a long nose, a narrower region between the nose and throat, and a prominent arch of the hard palate at the roof of the mouth. Affected infants may also have unusually wide space between the skull bones. D-bifunctional protein deficiency is sometimes described as pseudo-Zellweger syndrome, and it's similar to those of another disorder called Zellweger syndrome.

Source link: https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency


Nijmegen breakage syndrome

The head does not grow at the same rate as the rest of the body does, so it appears that the head is getting smaller as the body grows. Individuals with Nijmegen breakage syndrome have distinctive facial characteristics, including a sloping forehead, a prominent nose, large ears, a small jaw, and eye openings that point upward. People with Nijmegen fracture syndrome have an ineffective immune system that produces abnormally low quantities of immune system proteins called immunoglobulin G and immunoglobulin A. T cells, which are also affected by an immune system cell deficiency, are also missing. Individuals with Nijmegen breakage syndrome have an elevated risk of cancer, most commonly a form of immune system cell tumor called non-Hodgkin lymphoma. About half of people with Nijmegen breakage syndrome experience non-Hodgkin lymphoma, typically before age 15. Brain tumors such as medulloblastoma and glioma also occur in people with Nijmegen breakage syndrome, as well as a muscle tissue tumor called rhabdomyosarcoma. People with Nijmegen breakage syndrome are 50 times more likely to die of cancer than those without this condition. In those people with this illness for the first year or two of life, intellectual growth is normal, but then growth is slowed. The majority of women have premature ovarian failure and do not start menstruation until age 16, and have irregular menstrual cycles. The majority of women with Nijmegen breakage syndrome are unable to have biological children.

Source link: https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome


Sialic acid storage disease

Sialic acid storage disease is a genetic disease that mostly affects the nervous system. People with sialic acid storage disease have signs and symptoms that can vary greatly in severity. This disorder is usually classified into three categories: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease are two of three conditions. Infants affected by the condition called hydrops fetalis may have an illness in which excess fluid accumulates in the body prior to birth. Salla disease is a less common form of sialic acid storage disease. Babies with Salla disease typically begin hypotonia during the first year of life and go on to experience progressive neurological difficulties. Individuals with Salla disease usually live to adulthood. People with moderate to severe Salla disease have signs and symptoms that match those of ISSD and Salla disease in severity.

Source link: https://medlineplus.gov/genetics/condition/sialic-acid-storage-disease


Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Charlevoix-Say, more commonly known as ARSACS, is a disorder that affects muscle mobility. Those with ARSACS have abnormal tensing of the muscles, balance and coordination difficulties, as well as decreased sensation and weakness in the arms and legs, which are typical. Muscle cramps, involuntary eye movements, and difficulties with swallowing and speaking are all typical skeletal disorders that may arise in ARSACS. The first sign of ARSACS is unsteady walking style. Walking difficulties usually begin between the ages of 12 months to 18 months, as toddlers are learning to walk. Most individuals in need of wheelchair assistance by the time they are in their thirties or forties need wheelchair assistance by the time they are in their thirties or forties. ARSACS has been identified in individuals around the world, and it was named after the province in which it was first seen.

Source link: https://medlineplus.gov/genetics/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions