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https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome

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(LHON) Leber Hereditary optic Neuropathy

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(LHON) Leber Hereditary optic Neuropathy

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Lizbeth and Stacie

LHON is a a vision loss, it mostly beings in someones teens or twenties. There are some rare cases the being in early childhood or in their later adulthood.

Symptoms
-blurry and cloudy vision
-may being in one eye or in both eyes
LHON plus
-movement
-vision loss
-tremors
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mathrobna, meegle, abbnie

-Very rare inherited metabolic disorder and it effects the heart, kidney, liver, and brain.

Symptoms:
- muscle weakness
- heart problems
- kidney dysfunctions
- fail to gain weight
- difficulties sucking, swallowing, and/or breathing

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Seth + Erick

-results from inadequate intake, inability to metabolize carnitine due to enzymes deficiencies
-excess loss of carnitine due to severe diarrhea
-hereditary disorder in which carnitine leaks from renal tubules
- use of valproate

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Barth Syndrome / LIC (Lethal Infantile Cardiomyopathy)

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Barth Syndrome / LIC (Lethal Infantile Cardiomyopathy)

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Patricia & Julian
rare condition
-Primarily affects males
-resulting in an inborn error of lipid or fat metabolism and multisystem symptoms.
-X-linked genetic disorder
cardinal characteristics
-underdeveloped skeletal musculature and muscle weakness
-growth delay
-exercise intolerance
-cardiolipin abnormalities
-3-methylglutaconic aciduria
Treatment
-Symptomatic
-needs many medical professionals
A lot of infants and children  require therapy with diuretic and digitalis medications to treat heart failure
Most die early of heart failure or live to be in their forties.
Recurrent infection due to small number of white blood cells
Visible from young age
Newborns iregarly small
Mutations in the TAZ gene cause Barth syndrome. The TAZ gene provides instructions for making a protein called tafazzin. Tafazzin is located in structures called mitochondria, which are the energy-producing centers of cells.
1 x in male to have it
both x in female
Mother unitental fault

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Cassidy and Taylor
-affects many parts of the body but it mainly affects the bone marrow and the pancreas.
-the bone marrow produces red blood cells, white blood and platelets.
-lacking these things listed above can make you feel sick, weak, be more tired, bruise more easily, and take more time to stop bleeding.
-when it affects your pancreas, it can cause severe diarrhea, stomach pain, trouble gaining weight, and diabetes.
-some children who have this disease may have problems with liver, kidneys, heart, eyes, ears, or the brain.
-what causes it is that a changes in mitochondrial disease, which makes it hard for your body to make energy. it is not passed down and most likely no one else in the family has it.
there is no cure for this syndrome, but they have a treatment to decrease the seriousness of the symptoms so the children or whoever is diagnosed can live as long as possible.

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Madelyn and Lydia
-Reduces the bodies ability to detoxify properly.
-Results from two different types of gene mutations
-C677T -homozygous (affects 30-40% of the population)
-A1298C- homozygous (affects about 20% of the population)
-Combo of both- Rarest and worst
-Contributes to a whole lot of diseases due to a genetic mutation, like cancer and cardiac disease
-No cure, but able to be managed by blood tests and supplements
-Research
https://www.healthline.com/health/mthfr-gene#symptoms
https://www.verywellhealth.com/mthfr-gene-mutations-disease-risk-3232709
http://mthfr.net/blog/page/7/
https://www.parsleyhealth.com/blog/mthfr-mutation/
http://mthfr.net/berkey-water-filter/2016/12/15/
https://www.healthline.com/health/mthfr-gene#variants

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Dedra and kaylee
A disease associated with depletion of of mtDNA is skeletal muscle. Occurs primarily in children, mostly infants and toddlers.

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Logan and Abrianna

MEPAN is a mutation with one's mitochondrial fatty acid synthesis. There is a shortage of lipids that negatively affects the rate of cellular respiration. The disease causes muscle stiffness or spasm and difficulty with motor skills. It arises in early childhood.

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Navaeh

Melas isn't usually inherited, it can occur out of nowhere. It affects all ethnic and gender groups.
Symptoms-
- Stroke
-Seisures
-Numbness
-Partial paralysis
-Tremors
-Muscle spasms
-Blindness
-Deafness
-Myopathy
-Headache
-Vomiting
Test-
- Doctors check levels of lactic acid in your blood and cerebrospinal fluid
Diagnosis
-There is no cure for this disease but the article said medicine helps with it.
https://www.verywellhealth.com/elas-syndrome-2860390https://www.verywellhealth.com/melas-syndrome-2860390

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Stefanie Saliano and Jada Miller

Scientific Name- Myoclonic Epilepsy and Ragged-Red Fiber Disease.
This mitochondrial disease is genetic and extremely rare. Symptoms usually first appear during your childhood or adolescent years. Symptoms include myoclonus (sudden twitching or muscle spasms), seizures, ataxia (impaired coordination), ragged--red fibers (a abnormality in the mitochondria) . These vary from person to person. The cause of MERRF is a mutation in the mitochondria which you inherit from your mother. Although if that mother has a son, he can't pass it to his children. But to clarify, it does effect males and females, but males can't pass it on. There can be treatments for this like physical therapy and aerobic exercise for the coordination. Theres also medications to treat this like antiseizure which is self explanatory and other medications. There are specialists that can talk to you about this.

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Neylan & Raylynn

Leigh syndrome is a rare and severe neurological disorder that usually becomes apparent in the first year of life. It is caused by mutation in mt-DNA. It happens when genetic mutations in mitochondrial DNA interferes with energy sources that run cells in an area of the brain that plays a role in motor movements. The primary function of mitochondria is to convert the energy in glucose and fatty acid but since there are mutations it affects the nervous system.

Symptoms:
- vomiting
- seizures
- loss of appetite
- weakness
- lack of muscle tone
- movement disorders
- deafness

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graci and reese

- very rare (1.6 in 100,000 people)
- generally not inherited
- can delay syndrome but not treat it
- starts in childhood, continues throughout life span
caused by mitochondrial defects in DNA
- the affected areas would be around the eyes and head area
-SYMPTOMS
- weakness or paralysis of eye muscles
- breakdown of light sensing tissues in the back of the eye
- defects in electric signal towards the heart
- issues with balance and coordination
-abnormally high levels of proteins and fluids surrounding the spinal chord area
-muscles weakness in limbs
-deafness
- kidney problems
- infrequent seizures
- dementia
sources
https://www.brainfacts.org/Diseases-and-Disorders/Neurological-Disorders-AZ/Diseases-A-to-Z-from-NINDS/Kearns-Sayre-Syndrome
https://www.verywellhealth.com/kearns-sayre-syndrome-overview-4176121
https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome
https://ghr.nlm.nih.gov/condition/kearns-sayre-syndrome

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Caroline and Erin

Starts during childhood and has three main symptoms: dementia, liver disease, and seizures. Its an autosomal recessive disease. Symptoms aren't shown at birth. The first symptoms are usually nonspecific. Cortical blindness can develop, but it only happens 25% of the time. It's caused by the POLG gene. It happens every 1 in 100,000. Physical therapy can help with it. It usually affects children.

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Edison and Ben

Parkinson's Disease is a form of dementia that mostly affects those between the ages of 41 to 60 and over.  Some studies have found that African Americans are less likely than white Americans to develop Parkinson's. Additionally, rates of PD are very low in younger ages, but it still does occur. PD does not appear to have a pattern of genetic inheritance, although the pattern may simply be unknown.
PD develops from damage of the neurons in the midbrain region of the central nervous system.  This damage can be caused by mitochondrial diseases resulting in damage to the neurons. Parkinson's typically begins with hand shaking and  can evolve to full-body tremors. It has several stages, all of which can vary in severity of symptoms. Essentially, it affects body movement.  PD itself is not fatal, but it can lead to incidents that can be.
Sources:
https://www.michaeljfox.org/understanding-parkinsons/living-with-pd/topic.php?prognosis
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858583/
https://www.webmd.com/parkinsons-disease/default.htm

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Sophia Hayes and Amalie Mattison
Effects primarily the bone marrow and pancreas. It is caused by a mutation in mitochondrial DNA, this makes it hard for energy to be synthesized. Diagnosis is completed through bone marrow biopsies, and many children with this disorder die within infancy. Symptoms in most children are abnormal pigmentation of skin, anemia, delayed skeletal maturation, abnormal hemoglobin, low muscle tone, and type 1 diabetes. It is not passed down hereditarily. Children who live past age four with this disorder lose some symptoms but have more issues with their brain, spinal cord, and nerves. They have weak eye muscles and have a hard time coordinating their movements. Children require frequent blood transfusions, however stem cell transplants don't work with helping this disease.
Amalie's Source
https://www.omim.org/entry/557000