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Lysosomal Storage Disorders - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 02 April 2022

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CLN2 disease

CLN2 disease is a genetic disorder that mostly affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 to 4. Affected children's muscles also develop muscle twitches and vision loss. CLN2 disease has an effect on motor skills, such as sitting and walking, and speech development. The majority of children with CLN2 disease do not experience symptoms until later in life, usually after age 4. These individuals tend to have less noticeable physical appearance overall compared to those who were diagnosed earlier, but with more severe ataxia. One of a group of conditions known as neuronal ceroid lipofuscinoses, which may also be referred to as Batten disease in general. The different NCLs are identified by their genetic causes. Each disease class is given the term "CLN," which refers to ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.

Source link: https://medlineplus.gov/genetics/condition/cln2-disease


CLN10 disease

CLN10 disease is a severe disorder that predominantly affects the nervous system. Individuals with this condition typically show signs and symptoms within days after birth. While in the womb, it is likely that some of the affected individuals had seizures before birth. Infants with CLN10 disease have unusually small heads with brains that can be less than half of the average size. Brain cells are missing in areas that coordinate movement and control thinking and emotions. Nerve cells in the brain also lack a fatty substance called myelin, which protects them and promotes rapid transmission of nerve impulses. Infants with CLN10 disease often die hours to weeks after birth. Individuals with late-onset CLN10 disease have a shorter lifespan, depending on when their signs and symptoms first appeared. CLN10 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses.

Source link: https://medlineplus.gov/genetics/condition/cln10-disease


CLN1 disease

Nervous cells in the brain die over time in affected children, resulting in a general lack of brain tissue and unusually small head. Infants with severe feeding problems often necessitate a feeding tube as the disease progresses. Children with a CLN1 disease do not normally live past childhood. People with CLN1 disease do not experience symptoms until childhood or adulthood. In these individuals, life expectancy will depend on whether signs and symptoms of CLN1 disease develop and their severity; affected individuals may live only into adulthood or adulthood. Adults with CLN1 disease may also have mobility problems, such as impaired muscle coordination or a pattern of movement abnormalities identified as parkinsonism. The chronic disease of neuronal ceroid lipofuscinoses, which can also be referred to as Batten disease, is one of a group of disorders related to neovascular lipofuscinoses.

Source link: https://medlineplus.gov/genetics/condition/cln1-disease

* 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