Leigh

Syndrome
By: Sydney Abbott
Introduction Leigh syndrome is a rare
to inherited neurometabolic
disorder that affects the
Leigh central nervous system.
Syndrome This disorder happens
usually in infants and
kids between 3 months
and 2 years.This syndrome
is rarely diagnosed in
adults or older people.
Chromosome # The chromosome # for
and Leigh syndrome is #9
Proteins affected
The protein affected
for Leigh syndrome is
MTATP6.
 Symptoms
Weakness Deafness
Lack of muscle tone Loss of Appetite
Vomiting Difficulty
Diarrhea Swallowing
Diabetes Loss of head control
Blindness Episodes of Lactic
Liver Failure Acidosis
Treatment Options
Leigh Syndrome is a mitochondrial disease so
there isn't a cure for this condition. There is
treatment options but most of the options
aren't helpful for the patient. The most
common treatment is Thiamine or Vitamin B1.
Oral sodium bicarbonate or sodium citrate
may be given to help with the lactic acidosis
episodes. For future
Mutation type
Leigh syndrome is caused by mutations in mitochondrial DNA
or by deficiencies of an enzyme called pyruvate
dehydrogenase. Genetic mutations in mitochondrial DNA
interfere with the energy sources that run cells in an area of
the brain that plays a role in motor movements.
Mitochondrial DNA-associated Leigh syndrome is a progressive
brain disorder that usually appears in infancy or early
childhood.
 Story of Thomas Dow
THomas Dow is the oldest person that has lived with
LEigh syndrome.Tom was born in 1986 and was a healthy
kid except for having asthma. At the age of 4, he
started to walk weird. One day, Tom was playing and he
rolled his foot. he thought he had injured his foot so
he went to the doctor. When Tom got there, the doctor
noticed that Tom had signs of Leigh Syndrome and
sadly he did have Leigh syndrome.Tom has had a tough
time with this syndrome but he has really stayed happy
and is always in a good mood throughout this hard time
and Tom is still alive today and is going very well.
Photos
of
Thomas
Dow
Bibliography/sources
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8673543/
https://www.ninds.nih.gov/health-information/disorders/leigh-
syndrome
https://rarediseases.org/rare-diseases/leigh-syndrome/
https://my.clevelandclinic.org/health/diseases/6037-leigh-
syndrome-leighs-disease
https://medlineplus.gov/genetics/condition/leigh-
syndrome/#:~:text=Leigh%20syndrome%20is%20a%20severe,usuall
y%20due%20to%20respiratory%20failure.