FA is a very rare, genetic, recessive disease, affecting 1/50,000 people.
Originates from mutations in the “coding” of the mitochondria.
Discovered by Nicholaus Friedreich in the early 1860’s.
Both parents must have the dominant trait for a 25% chance of an offspring possessing the disease.
Not necessarily a disease that kills you, but eventually a wheelchair and regular assistance will be required.
Onset before age 20-25 year.
Ataxia is a medical condition which results in the lack of muscle coordination that usually affects voluntary movements such as walking, eye movements, speech, and the patient’s ability to swallow.
FA is a very rare, genetic, recessive disease, affecting 1/50,000 people.
Originates from mutations in the “coding” of the mitochondria.
Discovered by Nicholaus Friedreich in the early 1860’s.
Both parents must have the dominant trait for a 25% chance of an offspring possessing the disease.
Not necessarily a disease that kills you, but eventually a wheelchair and regular assistance will be required.
Onset before age 20-25 year.
Ataxia is a medical condition which results in the lack of muscle coordination that usually affects voluntary movements such as walking, eye movements, speech, and the patient’s ability to swallow.
Amyotrophic lateral sclerosis (ALS), AKA "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.
This ppt describes various movement disorders found commonly in elderly persons. It also describes hyper and hypokinetic disorder categorization with cause and pathophysiology of movement disorders.
Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body.
Friedreich Ataxia - A short presentationVaibhavRamesh
This is a presentation about the condition called Freidreich Ataxia, I have taken the content from renowned sources and the theme is from Slidesgo. I have also added a reference page to help you.
Amyotrophic lateral sclerosis (ALS), AKA "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.
This ppt describes various movement disorders found commonly in elderly persons. It also describes hyper and hypokinetic disorder categorization with cause and pathophysiology of movement disorders.
Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body.
Friedreich Ataxia - A short presentationVaibhavRamesh
This is a presentation about the condition called Freidreich Ataxia, I have taken the content from renowned sources and the theme is from Slidesgo. I have also added a reference page to help you.
Disorders of the neuromuscular junction include Myasthenia gravis, Lambert-Eaton myasthenic syndrome, Botulism, Tetanus, Strychnine intoxication, Organophosphates poisoning and neuromyotonia. Pharmacology of the NMJ is also reviewed in brief.
Multiple sclerosis (MS) is a demyelinating disease of central nervous system which includes brain and spinal cord.
it affect the myelin and by damaging the the myelin producing cell -Oligodendrocytes, which leads to sensory, motor and cognitive problems.
A seizure is a sudden, uncontrolled electrical disturbance in the brain. It can cause changes in your behavior, movements or feelings, and in levels of consciousness. If you have two or more seizures or a tendency to have recurrent seizures, you have epilepsy.
Chronic progressive external ophthalmoplegiaPS Deb
Chronic progressive external ophthalmoplegia (CPEO) is a descriptive term for a heterogeneous group of disorders characterized by chronic, progressive, bilateral, and usually symmetric ocular motility deficit and ptosis, without pain, proptosis and pupil involvement. Commonly a syndrome of Mitochondrial Cytopathy.
We all have good and bad thoughts from time to time and situation to situation. We are bombarded daily with spiraling thoughts(both negative and positive) creating all-consuming feel , making us difficult to manage with associated suffering. Good thoughts are like our Mob Signal (Positive thought) amidst noise(negative thought) in the atmosphere. Negative thoughts like noise outweigh positive thoughts. These thoughts often create unwanted confusion, trouble, stress and frustration in our mind as well as chaos in our physical world. Negative thoughts are also known as “distorted thinking”.
Welcome to TechSoup New Member Orientation and Q&A (May 2024).pdfTechSoup
In this webinar you will learn how your organization can access TechSoup's wide variety of product discount and donation programs. From hardware to software, we'll give you a tour of the tools available to help your nonprofit with productivity, collaboration, financial management, donor tracking, security, and more.
The Indian economy is classified into different sectors to simplify the analysis and understanding of economic activities. For Class 10, it's essential to grasp the sectors of the Indian economy, understand their characteristics, and recognize their importance. This guide will provide detailed notes on the Sectors of the Indian Economy Class 10, using specific long-tail keywords to enhance comprehension.
For more information, visit-www.vavaclasses.com
Palestine last event orientationfvgnh .pptxRaedMohamed3
An EFL lesson about the current events in Palestine. It is intended to be for intermediate students who wish to increase their listening skills through a short lesson in power point.
This is a presentation by Dada Robert in a Your Skill Boost masterclass organised by the Excellence Foundation for South Sudan (EFSS) on Saturday, the 25th and Sunday, the 26th of May 2024.
He discussed the concept of quality improvement, emphasizing its applicability to various aspects of life, including personal, project, and program improvements. He defined quality as doing the right thing at the right time in the right way to achieve the best possible results and discussed the concept of the "gap" between what we know and what we do, and how this gap represents the areas we need to improve. He explained the scientific approach to quality improvement, which involves systematic performance analysis, testing and learning, and implementing change ideas. He also highlighted the importance of client focus and a team approach to quality improvement.
Read| The latest issue of The Challenger is here! We are thrilled to announce that our school paper has qualified for the NATIONAL SCHOOLS PRESS CONFERENCE (NSPC) 2024. Thank you for your unwavering support and trust. Dive into the stories that made us stand out!
Operation “Blue Star” is the only event in the history of Independent India where the state went into war with its own people. Even after about 40 years it is not clear if it was culmination of states anger over people of the region, a political game of power or start of dictatorial chapter in the democratic setup.
The people of Punjab felt alienated from main stream due to denial of their just demands during a long democratic struggle since independence. As it happen all over the word, it led to militant struggle with great loss of lives of military, police and civilian personnel. Killing of Indira Gandhi and massacre of innocent Sikhs in Delhi and other India cities was also associated with this movement.
The Roman Empire A Historical Colossus.pdfkaushalkr1407
The Roman Empire, a vast and enduring power, stands as one of history's most remarkable civilizations, leaving an indelible imprint on the world. It emerged from the Roman Republic, transitioning into an imperial powerhouse under the leadership of Augustus Caesar in 27 BCE. This transformation marked the beginning of an era defined by unprecedented territorial expansion, architectural marvels, and profound cultural influence.
The empire's roots lie in the city of Rome, founded, according to legend, by Romulus in 753 BCE. Over centuries, Rome evolved from a small settlement to a formidable republic, characterized by a complex political system with elected officials and checks on power. However, internal strife, class conflicts, and military ambitions paved the way for the end of the Republic. Julius Caesar’s dictatorship and subsequent assassination in 44 BCE created a power vacuum, leading to a civil war. Octavian, later Augustus, emerged victorious, heralding the Roman Empire’s birth.
Under Augustus, the empire experienced the Pax Romana, a 200-year period of relative peace and stability. Augustus reformed the military, established efficient administrative systems, and initiated grand construction projects. The empire's borders expanded, encompassing territories from Britain to Egypt and from Spain to the Euphrates. Roman legions, renowned for their discipline and engineering prowess, secured and maintained these vast territories, building roads, fortifications, and cities that facilitated control and integration.
The Roman Empire’s society was hierarchical, with a rigid class system. At the top were the patricians, wealthy elites who held significant political power. Below them were the plebeians, free citizens with limited political influence, and the vast numbers of slaves who formed the backbone of the economy. The family unit was central, governed by the paterfamilias, the male head who held absolute authority.
Culturally, the Romans were eclectic, absorbing and adapting elements from the civilizations they encountered, particularly the Greeks. Roman art, literature, and philosophy reflected this synthesis, creating a rich cultural tapestry. Latin, the Roman language, became the lingua franca of the Western world, influencing numerous modern languages.
Roman architecture and engineering achievements were monumental. They perfected the arch, vault, and dome, constructing enduring structures like the Colosseum, Pantheon, and aqueducts. These engineering marvels not only showcased Roman ingenuity but also served practical purposes, from public entertainment to water supply.
How to Make a Field invisible in Odoo 17Celine George
It is possible to hide or invisible some fields in odoo. Commonly using “invisible” attribute in the field definition to invisible the fields. This slide will show how to make a field invisible in odoo 17.
3. WHAT IS FRIEDREICH'S ATAXIA ?
Its an Autosomal Recessive Inherited Disease that
causes Progressive damage to the nervous system
,resulting in symptoms ranging from gait
diaturbances to speech problems,,It can lead to
Heart disease and diabetes
4. First described by Germen physician Nikolus
Friedreich in the 1860s
Incidence 1:50,000
Onset before age 20-25year
5. GENETICS
Mutations in the FXN gene cause Friedreich ataxia.
This gene provides instructions for making a protein
called frataxin. Although its role is not fully
understood, frataxin is important for the normal
function of mitochondria,
the energy-producing centers within cells. One
region of the FXN gene contains a segment of DNA
known as a GAA trinucleotide repeat.
6. In people with Friedreich ataxia, the GAA segment
is repeated 66 to more than 1,000 times. The length
of the GAA trinucleotide repeat appears to be
related to the age at which the symptoms of
Friedreich ataxia appear, how severe they are, and
how quickly they progress. People with GAA
segments repeated fewer than 300 times tend to
have a later appearance of symptoms (after age
25) than those with larger GAA trinucleotide
repeats.
7. The abnormally long GAA trinucleotide repeat
disrupts the production of frataxin, which severely
reduces the amount of this protein in cells. Certain
nerve and muscle cells cannot function properly
with a shortage of frataxin, leading to the
characteristic signs and symptoms of Friedreich
ataxia.
8. PATHOLOGY
Primary site of pathology is Spinal cord and
peripheral Nerves
Degeneration of nerve tissue in the spinal cord,
In particular sensory nuerons essential(through
connections with the cerebellum) for directing
muscle movement of the arms and legs
The spinal cord becomes thinner and nerve cells lose
of their myelin sheath
9. SIGNS AND SYMPTOMS
dysarthria,
muscle weakness,
spasticity particularly in the lower limbs, scoliosis,
bladder dysfunction,
absent lower limb reflexes, and loss of position and
vibration sense
Diabetes (about 20% of people with friedrich ataxia
develop carbohydrate intolerance and 10% of
Diabetes Mellitus
Heart disorder (Atrial Fibrillation,Cardiomyopathy
,Tachycardia
10. DIAGNOSIS
Typically, diagnosis begins with a basic physical
exam and a careful assessment of personal and
family history.
During the physical exam, the neurologist is likely to
devote special time and attention to testing
reflexes, including the knee-jerk reflex. Loss of
reflexes occurs in most people with FA.
Tests for frataxin mutations are highly reliable and
can be used to confirm or exclude a diagnosis of FA
in almost all cases.
11. Electromyography (EMG) is done by inserting a
needlelike electrode into a muscle and recording
the electrical signals it generates during contraction
A computerized tomography (CT scan) or magnetic
resonance imaging (MRI) might be performed to
look for extensive changes in the cerebellum, which
are more common in spinocerebellar ataxias than in
FA.nerve conduction velocity test (NCV)
13. TREATMENT’
FA is a disease with multisystem involvement
so multidisciplinary action is needed
This should include
NEUROLOGIST
GENETICIST AND GENETIC COUNSELLOR
PHYSIOTHERAPISTS
SPEECH AND LANGAUGE THERAPISITS AND
ALSO CARDIOLOGIST,ORTHOPAEDICS
14. TREATMENT
DRUG THERAPY:
1) IDEBENONE:
short chain quinine analogue
act as potent antioxidant and electron
carrier
2)Deferiprone
3)Erythropoietin,pioglitazone
SUPPORTIVE THERAPY
Physiotherapy and mobility aids
treatment for cardiac failure
orthopedic surgery (scoliosis),Diabetics etc