This document provides an overview of the approach to evaluating and diagnosing ataxia. It begins with definitions of ataxia and discusses tests to differentiate various systems that can cause ataxia-mimicking symptoms. It then covers approaches to evaluating cerebellar ataxia, including assessing mode of onset, progression, focal vs symmetric involvement, and localizing the lesion. Common etiologies of acquired, inherited, autosomal dominant and recessive ataxias are summarized. The document provides a step-wise algorithm for evaluating and categorizing ataxia.
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.
Vestibular and Cerebellar Ataxia - Julius King KwedhiDr. Julius Kwedhi
The word "ataxia", comes from the Greek word, "a taxis" meaning "without order or incoordination". The word ataxia means without coordination. (http://www.ataxia.org/learn/ataxia-diagnosis.aspx)
Inability to coordinate voluntary muscle movements; unsteady movements and staggering gait. (WordWeb Dictionary)
MYOPATHIES A SPECIAL AND SEPERATE ENTITY WITH SPECIFIC FEATURES IN EACH DISORDER MAKING US EASY FOR DIAGNOSIS,CONFIRMATION BY MUSCLE BIOPSY.THE SEMINAR WAS PRSENTED ON 06/07/2011...AT 09.00AM
HAVE A LOOK ..AND COMMENT..WITHOUT BIAS..
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.
Vestibular and Cerebellar Ataxia - Julius King KwedhiDr. Julius Kwedhi
The word "ataxia", comes from the Greek word, "a taxis" meaning "without order or incoordination". The word ataxia means without coordination. (http://www.ataxia.org/learn/ataxia-diagnosis.aspx)
Inability to coordinate voluntary muscle movements; unsteady movements and staggering gait. (WordWeb Dictionary)
MYOPATHIES A SPECIAL AND SEPERATE ENTITY WITH SPECIFIC FEATURES IN EACH DISORDER MAKING US EASY FOR DIAGNOSIS,CONFIRMATION BY MUSCLE BIOPSY.THE SEMINAR WAS PRSENTED ON 06/07/2011...AT 09.00AM
HAVE A LOOK ..AND COMMENT..WITHOUT BIAS..
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.
Ataxia Physiotherapy Presentation - COAP study dayAtaxia UK
This is a presentation given by Anita Watson, Lecturer in Physiotherapy, at the Care of Ataxia Patients (COAP) study day on 18 November 2011 in Manchester. It is an overview of physiotherapy treatment options for people with ataxia.
Practical management of ataxia and balance impairment: Part 2MS Trust
This presentation by Dr Lisa Bunn looks at the practical management of ataxia and balance impairment among people with MS. It includes information on assessing ataxia, the rehabilitation of balance, and relevant research studies.
It was presented at the MS Trust Annual Conference in November 2013.
This overview of occupational therapy was developed by Karen Jacobs for the promOTing Occupational Therapy to rOTary initiative. Please learn more about this initative at promotingot.org at Facebook at promotingot and Twitter at @promotingot
Ataxia (Gk. A Taxis = Order; means lack of order)
Ataxia denotes a syndrome of imbalance and incoordination involving gait, limbs, and speech and usually results from the disorder of the cerebellum or its connections
It is characterized by dyssynergia, dysmetria,mdysdiadochokinesia (Joseph Babinski).
It is a disorder of rate, range, direction and force of movements (Gordon Holmes).
Ataxia denotes a syndrome of imbalance and Incoordination involving gait, limbs, and speech and usually results from the disorder of the cerebellum or its
connections
It is characterized by dyssynergia, dysmetria, dysdiadochokinesia (Joseph Babinski).
It is a disorder of rate, range, direction and force of movements (Gordon Holmes).
June 3, 2024 Anti-Semitism Letter Sent to MIT President Kornbluth and MIT Cor...Levi Shapiro
Letter from the Congress of the United States regarding Anti-Semitism sent June 3rd to MIT President Sally Kornbluth, MIT Corp Chair, Mark Gorenberg
Dear Dr. Kornbluth and Mr. Gorenberg,
The US House of Representatives is deeply concerned by ongoing and pervasive acts of antisemitic
harassment and intimidation at the Massachusetts Institute of Technology (MIT). Failing to act decisively to ensure a safe learning environment for all students would be a grave dereliction of your responsibilities as President of MIT and Chair of the MIT Corporation.
This Congress will not stand idly by and allow an environment hostile to Jewish students to persist. The House believes that your institution is in violation of Title VI of the Civil Rights Act, and the inability or
unwillingness to rectify this violation through action requires accountability.
Postsecondary education is a unique opportunity for students to learn and have their ideas and beliefs challenged. However, universities receiving hundreds of millions of federal funds annually have denied
students that opportunity and have been hijacked to become venues for the promotion of terrorism, antisemitic harassment and intimidation, unlawful encampments, and in some cases, assaults and riots.
The House of Representatives will not countenance the use of federal funds to indoctrinate students into hateful, antisemitic, anti-American supporters of terrorism. Investigations into campus antisemitism by the Committee on Education and the Workforce and the Committee on Ways and Means have been expanded into a Congress-wide probe across all relevant jurisdictions to address this national crisis. The undersigned Committees will conduct oversight into the use of federal funds at MIT and its learning environment under authorities granted to each Committee.
• The Committee on Education and the Workforce has been investigating your institution since December 7, 2023. The Committee has broad jurisdiction over postsecondary education, including its compliance with Title VI of the Civil Rights Act, campus safety concerns over disruptions to the learning environment, and the awarding of federal student aid under the Higher Education Act.
• The Committee on Oversight and Accountability is investigating the sources of funding and other support flowing to groups espousing pro-Hamas propaganda and engaged in antisemitic harassment and intimidation of students. The Committee on Oversight and Accountability is the principal oversight committee of the US House of Representatives and has broad authority to investigate “any matter” at “any time” under House Rule X.
• The Committee on Ways and Means has been investigating several universities since November 15, 2023, when the Committee held a hearing entitled From Ivory Towers to Dark Corners: Investigating the Nexus Between Antisemitism, Tax-Exempt Universities, and Terror Financing. The Committee followed the hearing with letters to those institutions on January 10, 202
Biological screening of herbal drugs: Introduction and Need for
Phyto-Pharmacological Screening, New Strategies for evaluating
Natural Products, In vitro evaluation techniques for Antioxidants, Antimicrobial and Anticancer drugs. In vivo evaluation techniques
for Anti-inflammatory, Antiulcer, Anticancer, Wound healing, Antidiabetic, Hepatoprotective, Cardio protective, Diuretics and
Antifertility, Toxicity studies as per OECD guidelines
Macroeconomics- Movie Location
This will be used as part of your Personal Professional Portfolio once graded.
Objective:
Prepare a presentation or a paper using research, basic comparative analysis, data organization and application of economic information. You will make an informed assessment of an economic climate outside of the United States to accomplish an entertainment industry objective.
Introduction to AI for Nonprofits with Tapp NetworkTechSoup
Dive into the world of AI! Experts Jon Hill and Tareq Monaur will guide you through AI's role in enhancing nonprofit websites and basic marketing strategies, making it easy to understand and apply.
A Strategic Approach: GenAI in EducationPeter Windle
Artificial Intelligence (AI) technologies such as Generative AI, Image Generators and Large Language Models have had a dramatic impact on teaching, learning and assessment over the past 18 months. The most immediate threat AI posed was to Academic Integrity with Higher Education Institutes (HEIs) focusing their efforts on combating the use of GenAI in assessment. Guidelines were developed for staff and students, policies put in place too. Innovative educators have forged paths in the use of Generative AI for teaching, learning and assessments leading to pockets of transformation springing up across HEIs, often with little or no top-down guidance, support or direction.
This Gasta posits a strategic approach to integrating AI into HEIs to prepare staff, students and the curriculum for an evolving world and workplace. We will highlight the advantages of working with these technologies beyond the realm of teaching, learning and assessment by considering prompt engineering skills, industry impact, curriculum changes, and the need for staff upskilling. In contrast, not engaging strategically with Generative AI poses risks, including falling behind peers, missed opportunities and failing to ensure our graduates remain employable. The rapid evolution of AI technologies necessitates a proactive and strategic approach if we are to remain relevant.
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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.
2. SYNOPSIS
Important concepts in Ataxia
ATAXIA MIMICKERS
Tests of Cerebellar dysfunction
Step-wise approach to Cerebellar Ataxias
Summary
ALGORITHM for cerebellar ataxias
3. ‘In Simple Terms…”
• ATAXIA- “Absence of ORDER” (Greek Word)
• In Neurological Terms-
“Incoordination of movement”
• A major feature of a disease or just one of the
various clinical features of a disease
4. Definition
• Ataxia is the inability to make smooth,
accurate and coordinated movements
• Arises from disorders of:
––Cerebellum
––Sensory pathways (Sensory Ataxia)
––Posterior columns, dorsal root ganglia,
peripheral nerves
––Frontal lobe lesions
––Extra pyramidal system
––Vestibular system
7. SENSORY ATAXIA
“Disturbances in the sensory input to the cerebellum”
•Tests of proprioception- Joint sense, passive
movement
“The corrective effects of the Visual system”
•Classical Sensory Ataxic Gait
•Romberg’s sign
•Loss of tendon reflexes
•Features of Peripheral neuropathy
10. Muscle weakness
• In the Miller-Fisher syndrome, which is
considered to be a variant of acute Guillain-Barré
polyneuropathy
• The severe ataxia and intention tremor are
presumably a result of a highly selective
peripheral disorder of spinocerebellar nerve
fibers
• Simple “tests of muscle power” can help detect
muscle weakness in various muscle groups
• CAVEAT- lead poisoning
11. Labrynthine Disorders
• Input to cerebellum
• Dizziness, light headedness, perception of
“movement”, rotatory nystagmus
• Infections, neoplasms, vascular causes
CAVEAT: involvement of flocculonodular lobe of
cerebellum, paraneoplastic and lateral
medullary syndromes (lateral medulla and
inferior lobe of cerebellum)
12. Cortical Ataxias
FRONTAL LOBE ATAXIA refers to disturbed coordination due to
dysfunction of the contralateral frontal lobe;
-Results from disease involving the frontopontocerebellar fibers
en route to synapse in the pontine nuclei.
• hyperreflexia, increased tone and Release reflexes
A lesion of the “SUPERIOR PARIETAL LOBULE” (areas 5 and 7 of
Brodmann) may rarely result in ataxia of the contralateral
limbs
13. Thalamic Ataxias
- transient ataxia affecting contralateral limbs
after lesion of anterior thalamus
- may see associated motor (pyramidal tract)
signs from involvement of internal capsule
- also can result in asterixis in contralateral
limbs (hemiasterixis)
21. ATAXIA
“errors in the RATE, RANGE, FORCE & DIRECTION
of movement”
•GAIT ATAXIA
•TRUNCAL ATAXIA
•LIMB ATAXIA
22. CLASSIC FEATURES AND TESTS
Dyssynergia: results in jerky decomposed
movements (heel-knee-shin test)
Dysmetria: due to delayed activation of
antagonists
•- often correction to target by series of jerky
corrections (finger nose test)
•- may lead to intention tremor in limbs with
finger-to-nose or foot-to-target testing as
rhythmic oscillation emerges close to target
Dysdiadochokinesis: irregularities of force,
speed, and rhythm
23. Other features
Hypotonia: decrease in resistance to passive movement of
muscles related to depression of gamma motor neuron
activity (usually seen transiently in acute phase of
cerebellar lesions), pendullar knee jerk
Rebound phenomenon: related to poor tone and weak
check response, so when tap or displace limb, wider range
of movement in return to static position, incl. Holmes
phenomenon when suddenly release flexed arm held
against resistance - unable to stop flexion and arm strike
self (delay in activation of antagonist triceps muscle)
Dysarthria: often scanning type with irregularities in tone,
with words broken into syllables; often slow with
occasional rapid portions ("explosive speech")
24. Other features
Ocular Motor Abnormalities:
- usually if vestibular connections or flocculonodular lobe
affected
- pursuit movements no longer smooth, but saccadic
- may over- or under-shoot target with attempts at fixation
(ocular dysmetria)
- in primary position may see saccadic intrusions (such
as macro square-wave jerks) or primary nystagmus (incl.
vertical, esp up-beat nystagmus) or periodic alternating
nystagmus
-rebound nystagmus can occur with contralateral-beating
nystagmus on return of eyes to primary position after
eccentric gaze evoked nystagmus to one side
Writing abnormalities
Positional projectile vomiting (posterior fossa lesions)
32. PROGRESSIVE ATAXIA
CLASSIFICATIONS OF GREENFIELD AND OF
HARDING
into three main groups:
(1) the spinocerebellar ataxias, with unmistakable
involvement of the spinal cord (Romberg sign, sensory
loss, diminished tendon reflexes, Babinski signs);
(2) the pure cerebellar ataxias, with no other
associated neurologic disorders; and
(3) the complicated cerebellar ataxias, with a variety
of pyramidal, extrapyramidal, retinal, optic nerve,
oculomotor, auditory, peripheral nerve, and
cerebrocortical accompaniments including what is
43. TOXINS
• Cancer chemotherapeutics 5 FU, Cytarabine
• Metals Bismuth, Mercury (parasthesiass,
restricted visual defects), Lead
• SolventsPaint thinners , toluene (Cognitive
defects PLUS pyramidal tract signs)
• AnticonvulsantsPhenytoin (purkinje cell
loss)avoid in epileptics with ataxia
44. INFECTIONS
• VZV in children
• EBV in children
• Bickerstaff’s encephalitis (brain
stemophthalmoplegia,ataxia,lower c.n
palsies)
• HIV ( Lymphomas, PML, Infections,
Toxoplasmosis)
• CJD (17% classic CJD, Ataxic variant of CJD)
• Syphilis (Tabes Dorsalis)
• Whipple’s disease
45. AUTOIMMUNE CAUSES
PARANEOPLASTIC SYNDROMES
•ANTI Hu abs. Small Cell Cancer Lung
(extrapyramidal signs)
•ANTI Yo abs. Ovarian cancer
•ANTI Ri abs. Breast cancer (opsoclonus –
saccadomania, Trunk ataxia)
•ANTI Tr abs. Hodgkin’s lymphoma (hearing
loss)
46. • GLUTEN SENSITIVITY - Anti Gliadin abs.
(ataxia, brisk reflexes, peripheral neuropathies)
• ANTI GAD abs. – Diabetes, hypothyroidism,
peripheral neuropathySTIFF PERSON
syndrome
AUTOIMMUNE CAUSES
53. SCA SALIENT FEATURES
• 3-5th decade of life ONSET, loss of ambulation
over 10-15 yrs. from onset
• Phenomena called ANTICIPATION and
PENETRANCE differs from each
SCAresponsible for various ages of
presentation and variable phenotypic
expression
• CAG repeat expansion in most of them
60. • NATURAL HISTORY:
-onset <25 yrs. At ADOLESCENCE
-loss of ambulation 15 yrs. Since onset
-Death usualyy due to cardiac complications
• VARIANTS:
-FA with Retained reflexes
-Late onset FA
Friederick’s ataxia
61. ATAXIA TELANGIECTASIA
• OCULOMOTOR APRAXIA , TELANGIECATSIAS
IN EYES, SKIN
• Hematological malignancies (defective DNA
repairs)
• Infections (Ig deficiencies)
• Other features-peripheral neuropathy,
choreoathetosis
64. X linked ATAXIAS
• X linked Dominant- Fragile X syndrome
• CGG repeats’ expansion
65. • X linked Recessive Ataxias- Sideroblastic
anemia with ataxia
X linked ATAXIAS
66. SPORADIC or IDIOPATHIC ATAXIAS
• Unknown genetic defects after ruling out
acquired causes
• Old age of onset
• Presents with Dysautonomia –Orthostatic
hypotension, erectile dysfunction, Urinary
incontinence
67. Investigations
• MRI Brain and Upper cervical cord
• CT Head
• Vit. E, B12 levels
• Total cholesterol levels, Thyroid hormones
• NCV and EMG studies (to rule out other systems’
involvement)
• Toxicology screen (includes phenytoin levels)
• Serology screen (for autoantibodies)
• CSF analysis
• Genetic Analyses (GAA, CGG, CAG repeat
analyses)
68. TREATMENT
• Reversible causes to be identified and treated
• Structural lesions to be considered for surgery
• Dietary modifications
• IDEBENONE- in Friederick’s Ataxia
• RILUZOLE- in Friederick’s Ataxia
• ACETAZOLAMIDE- in Episodc Ataxia
• GENETIC COUNSELLING
69. HISTORY SUMMARY
1. Duration: acute, subacute vs chronic
2. Rate of Progression: static vs progressive
3. Constant vs Paroxysmal
4. Associated features:
- headache & vomiting suggesting mass lesion with raised ICP
- previous neurological events (similar with ataxia - as in
episodic ataxias, or other as in multiple sclerosis or
vertebrobasilar TIAs)
5. Medical History:
- recent infection, Hx of malignancy or weight loss, breast
mass / tenderness, cough / hemoptysis
- drug use / intoxication, medications, alcohol, smoking,
environmental exposures
6. Family History positive or negative (in siblings or cousins
but not parents suggesting autosomal recessive or parents
and/or sibs suggesting autosomal dominant inheritance
70. EXAMINATION SUMMARY
General examination:
- signs of primary neoplasm (with paraneoplastic or metastatic
ataxia), vascular disease (stroke), cardiac abnormality (
Friedreick's) or Kayser-Fleischer rings (Wilson's)
-short stature and cataracts with mitochondrial disease
Higher Mental Functions:
- confusion associated with ataxia in Wernicke's, drug or
environmental toxicity, prion diseases or any condition
obstructing 4th ventricle leading to hydrocephalus with raised
ICP
71. Cranial Nerves:
- ophthalmoplegia seen in Wernicke's, brainstem infarcts,
demyelinating lesions, and Miller-Fisher syndrome (MFS)
- nystagmus common in most vestibulocerebellar (or
pancerebellar) disorders but prominent if drug toxicity (eg.
phenytoin), Wernicke's and multiple sclerosis (also episodic
ataxia-2)
- associated brainstem (cranial nerve) dysfunction if
concomitant involvement of brainstem or compression of it
by mass effect from cerebellum
- hearing loss or tinnitus with lesions of the cerebellopontine
angle (eg. vestibular schwannoma or meningioma)
EXAMINATION SUMMARY
72. EXAMINATION SUMMARY
Motor:
- weakness associated with ataxia is uncommon but can be
seen ipsilaterally with infarcts (or other lesions) of the basis
pontis or internal capsule (ataxic hemiparesis syndrome)
- also seen in MFS (with concomitant demyelinating
polyneuropathy), cord dysfunction (in paraneoplastic
syndromes or demyelinating multifocal disease)
- tremor associated either as intention tremor of cerebellar
origin or postural tremor in FXTAS (Fragile X), multiple
sclerosis, Wilson's disease
- myoclonus in prion disorders with cerebellar involvement
- parkinsonism with ataxia in multiple systems atrophy (also
dystonia and chorea if DRPLA)
73. SUMMARY
• RULE OUT “ATAXIA MIMICKERS”
• CONFIRM PREDOMINANT CEREBELLAR
INVOLVEMENT WITH RESPECTIVE TESTS
• ANSWER THE “FOUR” QUESTIONS
(Onset, progression, Symmetry, Localisation of
lesion)
• RULE OUT ACQUIRED CAUSES
• LARGE PEDIGREE CHART
• GENETIC ANALYSES
Atxaia can be a component of any of these systems involvement….
BUT THEN HOW ARE WE GOING TO SAY THAT THE ATAXIA OF THE PT IS BECAUSE ONLY BCOS OF CEREBELLAR INVOLVEMENT…BY TESTING THE CELEBELLAR FUNCTIONS….WE MUST KNOW WHAT TESTS ARE TO BE DONE TO ELICIT THIS DYSFXN….THATS EASY TO UNDERSATND IF WE KNOW THE CLINICAL ASPECTS OF ANATOMY, PHYSIO AND VASCULAR SUPPLY IF CERE….
LOCALOSATION OF SYMP AND SIGNS…
INVOLVEMENT OF THESE====FLORID DRAMATIC CEREBELLAR SYNMPTOMS
VASCULAR SYNDROMES…
IN ADDITION TO ATAXIA………OTHER…..trouble coordinating complex movements including contraction of agonist and antagonist muscle pairs; inaccuracy in reaching target due to premature arrest of movement (hypometria) or overshoot the target (hypermetria) trouble with rapid alternating movements such as pronation-supination of arm, with
Abnormalitites in breathing and its integration with speech
We are looking at the variuos causes and salient features of each will be discussed shortly……