Retinitis Pigmentosa 28

Retinitis pigmentosa (RP) is a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to die, causing progressive vision loss. The first sign of RP usually is night blindness. As the condition progresses, affected individuals develop tunnel vision (loss of peripheral vision), and eventually loss of central vision

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Phenylalanine Hydroxylase Deficiency

Phenylalanine Hydroxylase Deficiency [PAH]: Inability to tolerate phenylalanine, commonly found in everyday foods. If not managed properly, affected individuals can display microcephaly, epilepsy, decreased skin and hair pigmentation, eczema, severe intellectual disability, and behavior problems. Management includes dietary restrictions and other treatment medications.

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Glycogen Storage Disease Type II

Glycogen Storage Disease Type II [GAA]: A malfunction in the enzyme acid alphaglucosidase resulting in toxic sugar buildup. There are 3 types of Pompe disease: classic infantile-onset (symptoms include: muscle weakness, poor muscle tone, failure to thrive, heart defects leading to death in the first year of life), non-classic infantile-onset (the following symptoms are usually apparent in the first year of life: delayed motor milestones, progressive muscle weakness, serious breathing problems, leading to death in early childhood), and late-onset (progressive muscle weakness onsetting in adolescence or adulthood, especially in the legs and the trunk, breathing problems that can lead to respiratory failure).

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Fragile X Syndrome

Fragile X Syndrome [FMR1]: X-linked condition-features include mental retardation, behavioral problems (autistic-like features, etc), and characteristic facial features in affected males. Affected females may also have milder clinical manifestations. Premutation carrier females are at increased risk for premature ovarian insufficiency; whereas premutation carrier males are at increased risk for Fragile X-associated tremor/ataxia syndrome.

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Tay-Sachs Disease

Tay-Sachs Disease [HEXA]: A progressive neurodegenerative disorder which is characterized by the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life. A gray-white area around the retinal fovea centralis, due to lipid-laden ganglion cells, leaving a central ‘cherryred’ spot is a typical funduscopic finding. Pathologic verification is provided by the finding of the typically ballooned neurons in the central nervous system. An early and persistent extension response to sound (‘startle reaction’) is useful for recognizing the disorder.

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Carrier Frequency by Ethnicity >

For Tay-Sachs disease screening, enzyme analysis using blood is optional, as new research has established that comprehensive DNA sequencing of the Tay-Sachs gene is just as accurate as enzyme analysis.

NTSAD Position Statement 2019 Update: Standards for Tay-Sachs Carrier Screening >