Transcript Krabbe`s Disease - mrsashleymhelmsclass

Krabbe's Disease
By Jonathan Cabeza
Krabbe's Disease
Scientific name: (Globoid
Cell Leukodystrophy, GLD)
Cause of the disease
Krabbe disease is an
inherited enzyme
deficiency that leads
to the loss of myelin.
Myelin is a substance
that wraps nerve
cells and speeds cell
communication.
Krabbe disease is a
recessive disorder.
Target Population
The Krabbe's disease
happens mainly on
infants which most of
the time die at the
age of two. Although
it is most common to
find this disease in
infants there are a
few rare occasions
that this disease can
happen in teenagers
and adults.
Approximately one in
every 100,000 infants
born in the U.S or
Europe have Krabbe's
disorder.
Where?
Where (CNS): Krabbe's
disorder affect the CNS by
affecting muscle tone and
movement. Also, by
making your CNS work
slower.
Where (PNS): Krabbe's
disorder affects an
enzyme called
Galactocerebrosidase (
GALC). Lack of GALC can
damage cells in your brain
by letting the cells
produce toxins that
How?
How (CNS): As the diseases
progresses, muscles
began to weaken,
affecting the individual
ability to walk, move,
chew, swallow, and
breath.
How (PNS): People with
Krabbes lacks of Myelin
which is made up of
proteins and
phospholipids. Myelin
mission is to make sure
our nerves work
Without Myelin our PNS
would slow down and it
can affect the functions
of most of the nerves in
our body.
Symptoms
 Trouble eating
 Possible Seizures
 Loss of mental and
muscle function
 Lose the ability to see
and hear
 Can't walk, talk, or eat
 Slow reaction time
 Fever
 Crying for no reason
 Difficulty of sleep
Prognosis
The Prognosis for infantile
and juvenile Krabbe
disease is very poor.
Individuals with infantile
type usually die at an
average age of 13
months. Death usually
occurs within a year
after the child shows
symptoms and is
diagnosed. Children with
juvenile type may
survive longer after
diagnosis but death
Adult Krabbe disease is
more variable and
difficult to predict but
death usually occurs two
to seven years after
diagnosis.
Cure
• As of today there is no cure available for this disease.
• Some things can be done in order to make the person
more comfortable as possible.
• Medications can be given to control seizures. When the
•
individual cannot longer eat normally, feeding tubes
can be placed to provide proper nutrition.
Individual who has this disease but are diagnosed
before developing symptoms can undergo bone marrow
transplant or stem cell transplant. The goal of these
procedures is to destroy the bone marrow which
produces the blood and immune system cells. This is
done to slow down the symptoms or relieve some pain.
James Edward Kelly
• After his football career • James's son died in 2005
•
James has devoted most
of his time to his son
Hunter who was
diagnose with Krabbe's
disease.
In 1997, James
established a non-profit
organization in order to
help other people with
this disease.
since then he and his
wife have promised to
keep fighting against
this disease.
Organizations
• The Myelin Project: A
• Hunter's Hope
non-profit organization
established in 1989 by
Augusto and Michaela
Odone with the goal of
accelerating research on
Myelin repair. This
organization is sponsor by
parents who have lost
their children to this
horrible disease.
Foundation: This
organization mission is
to teach people about
this disease. Also to
help those families who
lost their love ones.
Most important is to
fund research in order
to find a cure.
Video
http://youtu.be/DzuvW3pgZLM
Credible resources
Wynbrandt., J & Ludman, M. (2000). Krabbe Disease. In
C. Rincon (Ed.), The Encyclopedia Of Genetic
Disorders and Birth Defects (2nd ed.). New York,
NY: Facts On File INC.
Guha, M. (1999). Krabbe Disease. In D. Olendorf, C.
Jeryan & K. Boyden (Eds.). The Gale Encyclopedia
Of Medicine (Vol. 3). Farmington Hills, MI: Gale
Encyclopedia Of Medicine.
Cashin Garbutt, A. (n.d.). krabbe disease- what is krabbe
disease? . Retrieved from http://www.newsmedical.net/health/Krabbe-disease-e28093-what-isKrabbe-disease.aspx
Credible Resources Continue
Petsko, G. (2011, July 220. Insights into krabbe disease
from structures of galactocerebrosidase.Retrieved
from http://www.pnas.org/content/108/37/15169
.full
Levasheff, J. (2008). Krabbe leukodystrophy (before &
after): Judson (Web). Retrieved from
http://www.youtube.com/watch?v=DzuvW3pgZLM