Huntingtons Disease HD Is an autosomal dominant genetic
- Slides: 36
Huntington’s Disease (HD) Is an autosomal dominant genetic mutation in either copy of an individual’s Huntingtin gene which results in a neuro-degenerative disorder that causes nerve cells in certain parts of the brain to waste away. It affects muscle coordination and leads to cognitive decline and psychiatric problems. It typically becomes noticeable in mid-adult life, although there is a juvenile form.
HD has been described as: MS, Parkinson’s, and Alzheimer’s Diseases… all rolled into ONE.
It has been called… ‘The cruelest disease known to man. ’
There is currently no treatment or cure.
Here a few of our stories…
Meet Katelyn…
She is 24 Years Old And suffers from Juvenile Huntington’s Disease.
When Kate was 15, she started to develop a lisp, and her grades in school began slipping from A’s to C’s and F’s.
At age 18, Kate received her diagnosis of Juvenile HD.
Kate’s brother Mikey was tested for Huntington's Disease at age 16. He tested negative.
In June 2012, Kate was blessed with a little piece of HEAVEN… spelled backwards. N E VA E H
Kate is in Stage 2 of JHD. She forgets to do things. She misplaces items. She has OCD tendencies. And seizures. She gets frustrated when her little brothers are too noisy and distracting. She has become very hard to verbally understand at times. Her balance is severely affected. She falls. She gets upset when she struggles to help her daughter button her clothes or fix her hair.
But most of the time Katelyn lives. . . She laughs, snuggles with her little girl, watches and listens to life. She does her best to live in. TODAY.
Meet Todd…
Todd was diagnosed with HD in late 2005. He was 34 years old.
Todd was a successful, respected Veterinarian in Sioux City. He had to retire and sell his practice in the Fall of 2009, at the age of 38.
Todd was always active. He loves the outdoors, and anything to do with hunting and fishing.
Huntington’s Disease has robbed him of these things. He can no longer hunt with a gun. He cannot play football or catch with his son. He no longer drives. He chokes easily. His speech is deteriorating along with his cognitive and motor skills. He uses a cane to help him walk. He falls. He gets frustrated by the things he can no longer do.
Meet Robin…
Robin is Todd’s younger sister. She is 42 years old.
Robin loved her career as a Social Worker. She lost her career to Huntington’s Disease
Robin has been in a nursing home for 3 years. She depends on full time nursing care for the simple tasks that we take for granted.
But Robin still has a beautiful smile to share… ESPECIALLY when she gets YELLOW roses!
HD families need HOPE. We believe there is HOPE in GM 1 Research.
What is GM 1? Ovine (sheep) GM 1 is a natural molecule that has shown great promise in treating and even reversing Huntington's symptoms in mice models. This research also gives hope for neurological diseases such as Parkinson's and Alzheimer's.
The Shepherd’s Gift: GM 1 for HD A grassroots, not for profit organization, dedicated to raising funds to bring relief and hope to people and families afflicted with HD and other neurologic diseases. Specifically, our mission is to promote ovine (sheep) GM 1 for the treatment of Huntington’s Disease (HD) and/or other neurological diseases through education, advocacy and fundraising.
We thank YOU for supporting our cause!
- Autosomal dominant vs autosomal recessive
- Hemizygous
- Telescoping digits
- Autosomal dominant
- Example of sex linked pedigree
- Whats an autosome
- Autosomal dominant punnett square
- What is an autosomal recessive trait
- Maternal effect
- Is turner syndrome autosomal or sexlinked
- Dominant vs recessive genetic disorders
- Narrow sense heritability vs broad sense heritability
- Inheritance of quantitative traits
- Dominant genetic variance
- Components of genetic variation
- Genetic programming vs genetic algorithm
- Gene flow vs genetic drift
- What is the difference between genetic drift and gene flow
- Gene flow vs genetic drift
- Genetic programming vs genetic algorithm
- Bharathi viswanathan
- Tautan gen adalah
- Autosomal vs sex linked
- Jacob syndrom
- Difference between autosomes and sex chromosome
- Autosomal recessive
- What causes phenylketonuria
- Autosomal linkage
- Is methemoglobinemia sex linked or autosomal
- Sry gene y chromosome
- Trisomy 13 pictures
- Autosomal vs sex linked
- Red-green color blindness pedigree chart
- Whats an autosomal trait
- Two copies of each autosomal gene affect phenotype
- Aplastic anemia lab findings
- What does pedigree mean in biology