Disease Information

Ataxia-Telangiectasia (A-T), alternatively known as Louis-Barr disease, refers to an autosomal-recessive cerebellar ataxia disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. A-T is a rare inherited disorder that affects an estimated 1:40,000 – 100,000 live births. Mutations in the ATM gene cause progressive degeneration to the cerebellum, central nervous system (CNS), and immune system, resulting in cognitive and physical decline and premature death. A-T is a disabling, progressive syndrome that severely impairs motor function and quality of life and becomes more disabling over the course of the disease.

GM2 Gangliosidosis
GM2 Gangliosidosis affects an estimated 1:200,000 -320,000 live births and are caused by mutations in the HEXA gene, which disrupts the activity of the enzyme beta-hexosaminidase A, preventing the enzyme from breaking down GM2 gangliosides. As a result, GM2 gangliosides accumulate to toxic levels, particularly in neurons in the brain and spinal cord, leading to cell death and resulting in the signs and symptoms of Tay-Sachs and Sandhoff disease.

Niemann-Pick Disease Type C
Niemann-Pick disease Type C is a rare (1:100,000 live births), prematurely fatal, autosomal recessive, lysosomal storage disorder. The disease begins in early childhood and presents with systemic, psychiatric, and neurological symptoms, including cerebellar ataxia. NPC is chronic and progressive in nature and is characterized by rapid degeneration of the cerebellum and major organ systems which severely impacts the quality of life.

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