Leading the Fight to treatand cure Tay-Sachs, Canavan and related diseases
The allied diseases under the NTSAD umbrella include over 50 lysosomal storage diseases and over 50 leukodystrophies. Here is a brief description of a few of the other allied diseases. Please visit the Chart of All Allied Diseases for a complete listing.
Fabry is an
x-linked lysosomal storage disease affecting roughly 1 in 117,000 people. Fabry is caused by the missing
enzyme alpha-galactosidase (alpha-GAL) which breaks down globotriaosylceramide (GL-3). Diagnosis is often delayed because of the wide range of symptoms, including problems with the heart, kidneys, skin, brain and gastrointestinal system. Even though Fabry is x-linked (only affects males) some female carriers experiences mild to severe symptoms.
Learn more: Fabry Support & Information Group National Institute of Disorders and Stroke
Gaucher is an
autosomal recessive lysosomal storage disease affecting approximately 1 in 20,000 people. It occurs in three types: Type I is the most common, does not affect the
central nervous system and treatable, Type II and III are more similar to infantile Tay-Sachs causing progressive loss of motor and mental function and always fatal in children. Gaucher is cause by the missing enzyme glucocerebrosidase which breaks down
glucocerebroside. Type I symptoms include easy bleeding and bruising, excessive fatigue, anemia, weak bones, bone and joint pain and swollen belly due to enlarged
spleen and liver.
Learn more: National Gaucher Foundation National Institute of Disorders and Stroke
Niemann-Pick disease refers to a group of diseases called Type A, B and C. Each type involves different organs and may or may not involve the central nervous system, onset of symptoms vary from infancy to adulthood. Types A and B are characterized by deficient levels of the enzyme acid
sphingomyelinase (ASM). There are approximately 1,200 cases of Type A and B worldwide. Type C is very different than Type A or B. It is characterized by inability to properly metabolize cholesterol and other lipids. There are about 500 known cases worldwide but the incidence is believed to be higher due to challenges diagnosing Type C.
Learn more: National Niemann Pick Disease Foundation National Institute of Neurological Disorders and Stroke
Pelizaeus-Merzbacher is an x-linked
leukodystrophy. The incidence is unknown. It is caused by mutations in the
gene for the proteolipid
protein (PLP). Symptoms usually begin in infancy with involuntary oscillatory movements of the eyes called nystagmus. Other symptoms include labored breathing, lack of muscle tone, stiffness, motor and intellectual milestones delayed. Even though Pelizaeus-Merzbacher is x-linked (only affects males) some female carriers experiences mild to severe symptoms.
Learn more:Pelizaeus-Merzbacher FoundationNational Institute of Neurological Disorders and Stroke
Pompe is an
autosomal recessive lysosomal storage disease. The incidence is estimated to be 1 in 40,000 births. It is characterized by deficient levels of the enzyme alpha-glucosidase (GAA). Onset of symptoms varies from infancy to adulthood. Babies with early onset experience feeding problems, poor weight gain, muscle weakness and enlarged heart. Symptoms of juvenile and adult forms of Pompe include muscle weakness progressing to breathing problems and cardiac involvement.
Learn more: Acid Maltase Deficiency Association Association for Glycogen Storage Disease National Institute of Neurological Disorders and StrokePompe Community
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At NTSAD, we are making a difference. Every day. Helping families and individuals find their way and providing hope by supporting research on many levels. All of this takes compassion and determination.
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