Tay-sachs Disease

692 Words2 Pages
bulb-icon

Recommended: Whose family tree could possibly harbor the recessive allele for tay sachs disease

Tay-sachs Disease

Tay-sachs disease is perhaps a very dramatic disease because it strikes most keenly at small children and babies. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as ganglioside GM2, is built up in the nerve cells in the brain. Infants who with Tay-sachs disease, who are not carriers, appear to develop normally for the first few months since their birth, but as the nerve cells become swollen with the fatty material, a severe decline of mental and physical abilities occurs. The child then becomes deaf, blind, and unable to swallow.

Soon, muscles begin to decay and paralysis takes effect. Eventually, the infant will die.

The first recorded case of Tay-sachs disease was described by Warren Tay, a British opthalmalogist, in 1881. In 1887, the American neurologist Barnard Sachs,described the neurology of Tay-sachs disease. Because these two men made such important contributions, as well as the earliest, to Tay-sachs disease, the disease was named after them.

Tay-sachs has infected millions of people since its discovery. The most common groups affected by Tay-sachs are Eastern and Central European Jews,some French-Canadians, the Irish, and some groups of Cajuns. The general carrier ratio for TSD is 1:250, or 0.4%.

Tay-Sachs is a recessive disorder, it is transmitted through the genes in the same way as eye color is passed from parent to child. Even though it is an inherited condition, most families are not aware that they carry genes for a disease until the birth of an affected child. Children with Tay-Sachs are most often born to parents with no family history of the disease. A recessive condition like Tay-Sachs results ...

... middle of paper ...

...m protect their families from this disease.A blood test can distinguish Tay-Sachs carriers from non-carriers. Blood samples can be analyzed by either an enzyme test or DNA studies. The enzyme test is a biochemical test that measures the level of Hex-A in a person's blood. Carriers have less Hex-A in their body fluid and cells than non-carriers, but babies with Tay-Sachs disease have a complete absence of Hex-A in their cells. The biochemical test is able to detect all Tay-Sachs carriers of all ethnic backgrounds.

Although there is no cure for TSD, there are several revention methods for the disease, which gives hope to those who are carrier, but would like to bring a family into the world. Hopefully, further study and research of Tay-Sachs will lead to a cure one day, and TSD will no longer be a deadly factor for infants, and bring hope to their parents.

Show More
Related

  • Tay-Sachs Disease Research Paper

    2257 Words  | 5 Pages

    Tay-Sachs disease is a rare and fatal genetic disorder that destroys neurons in the brain and spinal cord. The disease appears in three forms, Juvenile Onset, Late Onset (known as LOTS), and the most common form, Infantile (also known as Classic). The differences between the three forms of the disease are related to the age at which the symptoms of the disease begin to form. Tay-Sachs results from a deficiency of the enzyme hexosaminidase A, which plays a vital role in removing a fatty substance, called GM2 gangliosides, from neurons.

    Read More

  • Description of Tay-Sachs Disease

    1619 Words  | 4 Pages

    Tay-Sachs disease is a rear inherited disorder that affects the nerve cells (neurons) in the brain as well as the spinal cord. This disease is an autosomal recessive genetic disorder rather than a sex-linked disorder like some think. In order to inherit Tay-Sachs disease, the gene must be inherited by both parents (Gravel, 2003). If the gene is inherited only by one parent, then the individuals will only be a carrier and has the potential of passing on this disease to their children. The odds of inheriting Tay-Sachs disease if both parents are carriers are 1-4 (25%). The chromosome responsible for the abnormality or mutation that causes Tay-Sachs disease is chromosome 15. Chromosome 15 is the one that codes for production of the enzyme hexosaminidase A (Hex-A) (Gravel, 2003).

    Read More

  • ALS or Lou Gehrig’s Disease

    750 Words  | 2 Pages

    According to www.medterms.com , ALS is defined as “a classic motor neuron disease. Motor neuron diseases are progressive chronic diseases of the nerves that come from the spinal cord responsible for supplying electrical stimulation to the muscles. This stimulation is necessary for the movement of body parts.” “1 out of 10 cases are a genetic defect” (Amyotrophic lateral sclerosis- National Library of Medicine, 2012). The other nine times, the cause of cannot be determined.

    Read More

  • Parkinsons Disease: The Cause And Symptoms Of Parkinson's Disease

    773 Words  | 2 Pages

    James Parkinson. It’s not certain how long the disease has existed but its probably been around

    Read More

  • Batten Disease Essay

    2016 Words  | 5 Pages

    Batten disease or Neuronal Ceroid Lipofuscinoses (NCL) is nervous system disorder that is inherited. There is a few different age categories related to such disease but it usually manifests itself in childhood. Although Batten disease is the juvenile form of NCL, most doctors use the same term to describe all forms of NCL. Batten disease or NCL may be recognized by parents or doctors that notice a child begin to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality and behavior changes, delayed speech, slow learning, clumsiness or stumbling.

    Read More

  • Parkinson Disease

    1205 Words  | 3 Pages

    Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.

    Read More

  • Parkinson's Disease

    1507 Words  | 4 Pages

    Parkinson's is an idiopathic, multifactorial neurodegenerative disease that attacks neurotransmitters in the brain called dopamine. Dopamine is concentrated in a specific area of the brain called the substantia nigra. The neurotransmitter dopamine is a chemical that regulates muscle movement and emotion. Dopamine is responsible for relaying messages between the substantia nigra and other parts of the brain to control body movement. The death of these neurotransmitters affects the central nervous system. The most common symptoms are movement related, including shaking, rigidity, slowness of movement and difficulty with posture. Behavioral problems may arise as the disease progresses. Due to the loss of dopamine, Parkinson's patients will often experience depression and some compulsive behavior. In advanced stages of the disease dementia will sometimes occur. The implications of the disease on the anatomy and physiology of the respiratory and phonatory systems significantly control speech.

    Read More

  • Guillain- Barre Syndrome

    1448 Words  | 3 Pages

    Guillain- Barre Syndrome (GBS) is a rare, but very fatal auto- immune disease that specifically focuses on attacking the myelin sheath that surrounds the peripheral nerves in the human body. There are many different severities of this disease, but without treatment it can not only affect the entire nervous system but eventually shut down the rest of the body.

    Read More

  • Spina Bifida In Jan Tecklin's Pediatric Physical Therapy

    1495 Words  | 3 Pages

    In Jan Tecklin’s book, Pediatric Physical Therapy, he states that “spina bifida is the second most common birth defect after Down syndrome” (163). Spina bifida includes any birth defect where the spinal canal is not completely closed. It is considered to be a neural tube defect or an NTD. The

    Read More

  • The Irreversible Damage Caused by Fetal Alcohol Syndrome

    887 Words  | 2 Pages

    There is no known cure for Fetal Alcohol Syndrome. The series of physical and mental defects that comprise this Syndrome are irreversible.

    Read More

  • Huntingtons Disease

    704 Words  | 2 Pages

    Since the gene for HD is dominant, there is a 50% chance of a sufferer's

    Read More

  • Turner syndrome

    1109 Words  | 3 Pages

    Identification and Cure Although Turner Syndrome can be identified in the fetus or with a blood test, there is not a known cure for it. With growth hormone replacement therapy and oestrogen injections (female hormones), the female victim of Turner syndrome can live an outwardly normal life. Ongoing research in reproduction and adoption make it possible for these women to marry and raise children.

    Read More

  • The History Of Tuberculosis

    1693 Words  | 4 Pages

    Tuberculosis is a highly contagious disease that is spread through the air from one person to another causing it to be an airborne disease. When a person with tuberculosis coughs or sneezes the bacteria fly into the air. Anyone around a person with tuberculosis who is not wearing proper personal protective equipment, and breathes in the bacteria will then catch tuberculosis. Tuberculosis mainly affects the lungs, but it can

    Read More

  • Albinism

    486 Words  | 1 Pages

    For almost all types of Albinism both parents or mates must carry an albinism gene in order for their child to have albinism. Because the body has two sets of genes, a person may have normal pigmentation but carry the albinism gene. If a person has one normal gene and one albinism gene that is still enough to pass the disease on to their children. Even if both parents have the albinism gene it does not mean they have the sickness. The baby will have a one out of four chance of getting the disease. This is inherited by autosomal recessive inheritance.

    Read More

  • Tuberculosis

    810 Words  | 2 Pages

    Researchers have also identified a list of other factors associated with TB transmission such as environmental, organism and host factors, but these unfortunately, are outside the scope of the present paper. 16

    Read More

More about Tay-sachs Disease

Open Document