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Human Genetic Disorder Presentation
4
G E N E T I C D I S O R D E R S
NEUROFIBROMATOSIS
Neurofibromatosis
General Information
Alternate Names:
Von Recking Disease
NF
NF1
NF2
NF3 (Schwannomatosis)
NF 1
Bone Deformities, Short Stature, Freckling in Armpit or Groin Area, Neurofibromas, Mild Learning Disabilities
S Y M P T O M S
NF 2
Types
Ringing in Ears, Poor Balance, Numbness & Weakness in Arms or Legs, Facial Drop, Seizures
NF 3 (Schwannomatosis)
Loss of Muscle, Chronic Pain, Tumors, Numbness or Weakness in the body
Hereditary transition of NF in 20% of the cases investigated were described.
1901
Frederick Von Recklinghausen
First described in 1882
Preiser and Davenport established that the disease wasn't sex-linked and followed Mendel's Law of Inheritance.
Historical Information
1918
Autosomal Dominant
Causes of Disease
Mutation of genes
NF1: Chromosome 17
NF2: Chromosome 22
NF3: SMARCB1 & LZTR1
There is equal distribution among gender, race, and lifestyle.
Diagnosis
Diagnosis
NF1
Signs are often noticable at birth, shortly after birth, or almost always by age 10.
Doctors begin by reviewing personal and family medical histories as well as a physical examination.
It is able to be diagnosed prenatally only if one of the parents expresses the disease.
NF2
Signs generally appear during the late teen and early adult years.
NF3
Signs usually appear between ages 25 and 30.
Tested for Future Use
Replacement of the NF1 gene.
Current
Treatments
- Medication
- Surgery
- Cancer Treatment
- Pain Medications
Predicted Outcome
Prognosis
- With no complications, the life expectancy is normal
- Mild mental impairment, but NF1 is a known cause of ADHD
- Learning Disabilities are common
- Many pain symptoms are subsided with the help of medication
- Increased chance of developing severe tumors (which can shorten lifespan)
Available Genetic Testing?
Ethical?
Yes
When is it done?
Completely. Running genetic tests on the unborn child would only prove in its best interest. The parent(s) doing the genetic testing must be worried that if the child has it, it might experience severe symptoms.
Prenatally
Genetic Testing
The right choice is to do the genetic testing so you are better prepared to handle the disorder.
How it Affects Everyone
Impact
Afflicted Person-
Emotionally: Low self esteem
Socially: They might look different
Depending on how severe it is, they might or might not think they are different. Coping can include joining support groups.
Family-
There can be extra stress if the expressed characteristics of the disease include tumors, ADHD,
or neurofibromas. More attention due to needed assistance.
Society-
There is only one major affect and that is the chance that the kids of the person with the disorder might have the disorder (and symptoms can be severe).
Sources
S O U R C E S
- Medline Plus
https://medlineplus.gov/ency/article/000847.htm
- Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/neurofibromatosis/symptoms-causes/syc-20350490#:~:text=Neurofibromatosis%20is%20caused%20by%20genetic,is%20located%20on%20chromosome%2017.
- NBCI
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3754363/#:~:text=Neurofibromatosis%2C%20which%20was%20first%20described,eyes%20and%20possibly%20other%20organs.