Akinetic rigid syndrome


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Akinetic rigid syndrome

  1. 1. Akinetic rigid syndrome Presenter Dr.Amit R.Barua. 9/11
  2. 2. Introduction <ul><li>Akinetic rigid syndrome implies= </li></ul><ul><li>:Slowness of initiation of movement specially involving upper body ( akinesia) </li></ul><ul><li>: Rigidity . </li></ul><ul><li>{characterized by abnormal stiffness due to </li></ul><ul><li>increased tone of both the agonist and </li></ul><ul><li>antagonist muscles ( lead pipe ) </li></ul><ul><li>or </li></ul><ul><li>cogwheel rigidity , due to superimposed or </li></ul><ul><li>underlying tremor.} </li></ul>
  3. 3. Introduction <ul><li>It may additionally be accompanied by= :Slowness of movement ( bradykinesia ) </li></ul><ul><li>:Thought ( bradyphrenia ), </li></ul><ul><li>: Difficulty initiating movement , </li></ul><ul><li>: Progressive fatiguing , </li></ul><ul><li>: Diminishing amplitude of repetitive alternating movements with or without tremor at rest , (usually 3-5 Hz) and on posture (usually 4-8 Hz) </li></ul><ul><li>: Postural instability . </li></ul>
  4. 4. Aetiology <ul><li>Akinetic-rigid syndromes can be caused by diverse etiologies. </li></ul><ul><li>It is vital to separate idiopathic Parkinson's disease from other neurodegenerative diseases and causes of secondary parkinsonism as it has significant therapeutic implications. </li></ul><ul><li>Often the history may be nonspecific and all investigations may be normal. </li></ul><ul><li>The diagnosis may thus rest entirely on clinical features. </li></ul><ul><li>The etiological diagnosis of Akinetic rigid syndrome has critical therapeutic and prognostic implications. </li></ul>
  5. 5. Neurodegenerative disorders <ul><li>Commonest aetiology >40yrs. </li></ul><ul><li>1.Symmetrical neurodegenerative disorders . </li></ul><ul><li>:MSA. </li></ul><ul><li>:PSP. </li></ul><ul><li>2.Asymmetrical neurodegenerative disorders. </li></ul><ul><li>:PD. </li></ul><ul><li>:CBD. </li></ul>
  6. 6. 2.Asymmetrical neurodegenerative disorders <ul><li>Idiopathic PD characterized by= </li></ul><ul><li>Insidious onset akinesia and rigidity (either lead pipe or cogwheel), </li></ul><ul><li>Generally involving one limb at onset, which involves axial musculature and becomes bilateral. </li></ul><ul><li>Clinical asymmetry is retained as the disease progresses over 10 or more years. </li></ul>
  7. 7. Asymmetrical neurodegenerative disorders Akinesia/Bradykinesia <ul><li>50% of IPD patients complain of slowing up at presentation. </li></ul><ul><li>The slowness of IPD involves both initiation and execution of movements, particularly sequential and volitional actions. </li></ul><ul><li>Writing becomes smaller ( micrographia ). </li></ul>
  8. 8. Asymmetrical neurodegenerative disorders Akinesia/Bradykinesia <ul><li>Gradually they develop difficulty washing, feeding, dressing and turning in bed, but these functions are rarely affected at presentation. </li></ul><ul><li>Loss of facial expression occurs early , while= </li></ul><ul><li>: Decreased eye blinking, </li></ul><ul><li>:Hypophonia, </li></ul><ul><li>:Impaired swallowing leading to sialorrhoea are later features . </li></ul>
  9. 9. Asymmetrical neurodegenerative disorders Rigidity <ul><li>The rigidity of IPD is, constant throughout a full range of passive movement ( lead pipe rigidity .) </li></ul><ul><li>If a postural tremor is superimposed it takes on a ratchet characteristic described as &quot;cogwheel&quot; rigidity. </li></ul><ul><li>The majority of patients have rigidity on examination, especially if synkinesis of the opposite limb is performed; the increased tone is often unilateral at presentation spreading to become bilateral over three to five years, but maintaining an asymmetrical emphasis. </li></ul>
  10. 10. Asymmetrical neurodegenerative disorders Rigidity <ul><li>The rigidity initially targets limbs and later spreads axially predominantly involving limb and trunk flexors leading to characteristic stooped posturing with trunk, neck and arm flexion and foot inversion. </li></ul><ul><li>The rigidity is abolished by sleep. </li></ul><ul><li>In 80% of cases responds well to dopaminergic agents. </li></ul>
  11. 11. Asymmetrical neurodegenerative disorders Tremor <ul><li>40% of patients will complain of tremulousness of hand at rest, which improves with action. </li></ul><ul><li>80% will have an asymmetrical 3-5 Hz rest tremor evident on examination. </li></ul><ul><li>A 4-8 Hz postural tremor is as frequent as the characteristic rest tremor. </li></ul><ul><li>The tremor of IPD can affect the eyelids, jaw,chin and legs in addition to arms. </li></ul><ul><li>Parkinsonian tremor is not associated with in-coordination. </li></ul><ul><li>I ncreased by anxiety and abolished by sleep. </li></ul><ul><li>Limb activity attenuates rest but increases postural tremor . </li></ul>
  12. 12. Asymmetrical neurodegenerative disorders Tremor <ul><li>IPD presenting as an isolated postural tremor , can be differentiated from essential tremor by= </li></ul><ul><li>1.Late onset. </li></ul><ul><li>2.Starting in one limb and a latency of a few seconds </li></ul><ul><li>when the arm is extended. </li></ul><ul><li>Also the breakthrough &quot;rest&quot; component of severe essential tremor can be discriminated from the rest tremor of IPD as its amplitude is reduced and the frequency is similar to that of the postural component. </li></ul><ul><li>In IPD, the rest tremor has a higher amplitude and lower frequency than the postural component. </li></ul>
  13. 13. Asymmetrical neurodegenerative disorders Tremor <ul><li>Around 50% of rest tremors respond well to dopaminergic and anticholinergic agents. </li></ul><ul><li>Rarely a minority are refractory. </li></ul><ul><li>Postural tremors of IPD, like Essential tremor, may respond to both β blockers and ethanol . </li></ul>
  14. 14. Asymmetrical neurodegenerative disorders Gait & Postural reflexes <ul><li>The patient usually complains of = </li></ul><ul><li>: Reduced speed of walking with shortening of steps, </li></ul><ul><li>occasionally dragging of one leg. </li></ul><ul><li>: Reduced arm swing on the affected side. </li></ul><ul><li>: Later a tendency to shuffle develops, followed by= </li></ul><ul><li>#G ait initiation difficulties, </li></ul><ul><li>#Freezing , </li></ul><ul><li>#Festination. </li></ul><ul><li>(involuntary acceleration while walking) </li></ul>
  15. 15. Asymmetrical neurodegenerative disorders Gait & Postural reflexes <ul><li>They also have difficulties in turning and rising </li></ul><ul><li>from a chair/bed. </li></ul><ul><li>While early slowing of gait responds to dopaminergic agents the later complications do not, though they may be helped by the presence of external cues= </li></ul><ul><li>:Such as walking across lines, </li></ul><ul><li>:Listening to a metronome ticking, </li></ul><ul><li>:Marching music on a walkman tape. </li></ul>
  16. 16. Asymmetrical neurodegenerative disorders Ocular movements <ul><li>Ocular movements especially pursuits and reflexive saccades are preserved till late unlike PSP . </li></ul><ul><li>However formal testing of remembered saccades to an occluded target or anti-saccades reveals slowing. </li></ul><ul><li>A frank supranuclear gaze problem is rarely seen . </li></ul><ul><li>Restricted voluntary up gaze and convergence can, however,be seen and, indeed, is present in a minority of elderly normal subjects. </li></ul>
  17. 17. Asymmetrical neurodegenerative disorders Dystonia <ul><li>Cases particularly prone to exhibit limb dystonia= </li></ul><ul><li>:1.Younger onset IPD, </li></ul><ul><li>:2.PD associated with parkin mutations. </li></ul>
  18. 18. Asymmetrical neurodegenerative disorders Dysautonomia <ul><li>PD patients frequently admit to = </li></ul><ul><li>:1.Impotence, </li></ul><ul><li>:2.slowed bowel motility(associated constipation and abdominal pain.) </li></ul><ul><li>: 3.Symptomatic OH may develop as the disease progresses. </li></ul>
  19. 19. Asymmetrical neurodegenerative disorders Dysautonomia <ul><li>Urinary hesitancy may reflect IPD or prostatism, but urgency and incontinence are usually caused by bladder instability.Increased sweating &quot;seborrhoea &quot; and facial flushing are late features . </li></ul><ul><li>Dopaminergic agents are ineffective and worsen hypotension. </li></ul><ul><li>Anticholinergic drugs such as tolterodine worsen constipation but can help bladder instability. </li></ul><ul><li>Constipation may respond to senna laxatives or lactulose. </li></ul>
  20. 20. Asymmetrical neurodegenerative disorders Cognition <ul><li>Frank dementia is unusual at presentation though slowness with executive functions such as sorting, fluency and problem solving can be evident. </li></ul><ul><li>Later, significant subcortical dementia occurs in 25% of the patients. </li></ul><ul><li>Associated Alzheimer's disease may give rise to a dementia with cortical features and Diffuse Lewy Body disease is differentiated by characteristic fluctuating confusion, visual hallucinations and paranoid delusions. </li></ul><ul><li>Dopaminergic and anticholinergic agents are ineffective and indeed may cause or exacerbate confusion, hallucinations and psychosis. </li></ul>
  21. 21. Asymmetrical neurodegenerative disorders Cognition <ul><li>Anticholinesterase inhibitors such as Rivastigmine may be helpful . </li></ul><ul><li>Mild apathy and frustration are common at disease onset. </li></ul><ul><li>Majority of IPD patients are mildly depressed. </li></ul><ul><li>Panic attacks and anxiety can be presenting features of IPD. </li></ul>
  22. 22. Asymmetrical neurodegenerative disorder Diffuse Lewy Body disease <ul><li>Diffuse Lewy body disease presents with an akinetic rigid state in around 24-40% patients. </li></ul><ul><li>Approximately 90% will develop akinetic rigid syndrome in the course of illness. </li></ul><ul><li>The other features are hypophonic speech, masked facies, stooped posture and festinating gait. </li></ul><ul><li>These akinetic rigid features are responsive to </li></ul><ul><li>levodopa simulating idiopathic PD </li></ul>
  23. 23. Asymmetrical neurodegenerative disorder Diffuse Lewy Body disease <ul><li>However, rest tremor is uncommon in DLBD . </li></ul><ul><li>Myoclonus may be present in 18% patients in contrast to PD. </li></ul><ul><li>There is presence of syncope, repeated falls. </li></ul><ul><li>However, early presence of cognitive deficits within a year of diagnosis as opposed to PD . </li></ul><ul><li>After Alzheimer's disease, it is the second most frequent cause of dementia. </li></ul>
  24. 24. Asymmetrical neurodegenerative disorder Diffuse Lewy Body disease <ul><li>The cognitive deficits in DLBD are fronto-subcortical in nature. </li></ul><ul><li>Involving= </li></ul><ul><li>psychomotor speed, </li></ul><ul><li>verbal fluency, problem solving. </li></ul><ul><li>Visuospatial abilities as opposed to early involvement of language and memory functions in Alzheimer's disease. </li></ul>
  25. 25. Asymmetrical neurodegenerative disorder Diffuse Lewy Body disease <ul><li>The dementia in DLBD is associated with = :Prominent visual hallucinations, </li></ul><ul><li>:Fluctuating mental state. </li></ul><ul><li>The visual hallucinations are= </li></ul><ul><li>: Well-formed, </li></ul><ul><li>:Detailed animate figures evoking emotional </li></ul><ul><li>responses. </li></ul><ul><li>Systemized delusions are also common. </li></ul>
  26. 26. Asymmetrical neurodegenerative disorder Diffuse Lewy Body disease <ul><li>Depression may be present in 50-60% of the patients. </li></ul><ul><li>REM sleep behavior disorders are also frequent. </li></ul><ul><li>DLBD Vs PD </li></ul><ul><li>DLBD had older age of onset (68 vs 62), </li></ul><ul><li>Shorter disease duration, </li></ul><ul><li>Less frequent rest tremor (55% vs 85%) </li></ul><ul><li>Response to levodopa is less frequent (70% vs 100%). </li></ul><ul><li>(Louis & Klatka et al.,1997) </li></ul>
  27. 27. Asymmetrical neurodegenerative disorder Diffuse Lewy Body disease <ul><li>The most useful feature may the predominant signs at presentation as DLBD presents with cognitive and psychiatric signs in 72% cases as compared to PD (6%). </li></ul><ul><li>(Louis &Klatka et al.,1997) </li></ul>
  28. 28. Asymmetrical neurodegenerative disorder Corticobasal degeneration <ul><li>Corticobasal degeneration (CBD) is strikingly asymmetrical in its presentation, mimicking IPD. </li></ul><ul><li>:Apraxia of the affected limb. </li></ul><ul><li>Difficulty recognizing objects by tactile impressions alone due to cortical sensory loss. </li></ul><ul><li>Simultagnosia </li></ul><ul><li>Dysgraphaesthesia, despite preservation of light touch and pin prick sensation. </li></ul>
  29. 29. Asymmetrical neurodegenerative disorder Corticobasal degeneration <ul><li>The other manifestations in CBD include= </li></ul><ul><li>:1. limb myoclonus that may be stimulus sensitive, </li></ul><ul><li>:2.Asymmetric postural limb tremor, </li></ul><ul><li>:3.Limb dystonia. </li></ul><ul><li>:4.Early and severe dysphagia and dysarthria. </li></ul><ul><li>Supranuclear gaze difficulties have been described with CBD, however they are less common than PSP. </li></ul><ul><li>Pyramidal signs(extensor plantar responses.) </li></ul><ul><li>Cerebellar signs and dysautonomia are not typically seen in CBD as opposed to MSA. </li></ul>
  30. 30. Asymmetrical neurodegenerative disorder Corticobasal degeneration <ul><li>Dementia is usually a late feature of CBD , </li></ul><ul><li>but an early frontal dementia disease can occasionally be seen. </li></ul><ul><li>Dysphasia occurs early and frequently. </li></ul><ul><li>Frontal release signs can occasionally be seen. </li></ul><ul><li>Cases with atypical presentation simulating fronto temporal dementia and primary progressive aphasia have also been described. </li></ul>
  31. 31. Asymmetrical neurodegenerative disorder Corticobasal degeneration <ul><li>A poor levodopa response is invariable in this disorder and amantadine, is also usually ineffective. </li></ul><ul><li>Treatment is essentially supportive . </li></ul><ul><li>Thus the main features that differentiate CBD from PD are = </li></ul><ul><li>ideomotor apraxia, </li></ul><ul><li>alien hand, </li></ul><ul><li>limb dystonia, </li></ul><ul><li>cortical sensory loss, </li></ul><ul><li>lack of gait difficulties </li></ul><ul><li>lack of response to levodopa. </li></ul>
  32. 32. Symmetrical neurodegenerative disorder Multiple system atrophy <ul><li>Multiple system atrophy most commonly begins in the early 50s(median survival of 9.3 years.) </li></ul><ul><li>Parkinsonism occurs in 90% of patients with multiple system atrophy and is usually symmetrical unlike IPD. </li></ul><ul><li>Cerebellar or pyramidal signs each occur in about half of the patients. </li></ul><ul><li>Rest tremor is seen in MSA but is far less frequent than in IPD. </li></ul><ul><li>Limb ataxia or intention tremor can be present in MSA, particularly in later stages, which is never seen in IPD. </li></ul>
  33. 33. Symmetrical neurodegenerative disorder Multiple system atrophy <ul><li>Autonomic dysfunction failure occurs in virtually all patients and it may precede the motor disturbance by months or even some years. </li></ul><ul><li>In men, impotence is often the first symptom and incontinence, more than retention, is common in both sexes. </li></ul><ul><li>Symptomatic postural hypotension is common and unlike PD occurs early . </li></ul>
  34. 34. Symmetrical neurodegenerative disorder Multiple system atrophy <ul><li>Respiratory stridor affects about 30% of patients at some stage and when combined with parkinsonism is highly suggestive of multiple system atrophy. </li></ul><ul><li>Severe apnoeic attacks and hypoventilation can become severe enough to warrant a tracheostomy. </li></ul><ul><li>Speech may differ qualitatively from the hypophonic monotony of Parkinson's disease, incorporating quivering, strained or slurring components. </li></ul><ul><li>Many patients develop severe aphonia, anarthria and dysphagia, which are rare in Parkinson's disease. </li></ul>
  35. 35. Symmetrical neurodegenerative disorder Multiple system atrophy <ul><li>Unlike PD extraocular smooth pursuit movements are hypometric to pursuit with saccadic intrusion and may also show sustained nystagmus. </li></ul><ul><li>Square wave jerks may also be evident on central fixation. </li></ul><ul><li>Voluntary saccades are usually full and supranuclear gaze problems are noted occasionally. </li></ul>
  36. 36. Symmetrical neurodegenerative disorder Multiple system atrophy <ul><li>Hyper reflexia in conjunction with spasticity and a positive Babinski response is only seen in MSA and not IPD. </li></ul><ul><li>The flexed posture of MSA patients can be extreme and unlike patients of IPD they become bent double with their chins on their chest.Limb dystonia can also be a feature of MSA. </li></ul><ul><li>While frontal executive problems are found in MSA, frank dementiais are rare, as are the hallucinations, confusion and psychosis associated with cortical Lewy body disease. </li></ul>
  37. 37. Symmetrical neurodegenerative disorder Multiple system atrophy <ul><li>Responds poorly to L-Dopa. </li></ul><ul><li>Autonomic function tests can document disturbed control of blood pressure and heart rate, but taken in isolation they are not particularly helpful in determining whether this is due to multiple system atrophy or due to Parkinson's disease, as similar results can be obtained in both diseases. </li></ul><ul><li>In contrast, an abnormal external sphincter electromyogram reflecting loss of anterior horn cells in Onuf's nucleus in the sacral cord is highly suggestive of multiple system atrophy </li></ul><ul><li>The presence of putaminal hypo intensity relative to globus pallidus on T2 weighted MRI or slit hyper intensity of the lateral putaminal margin, with or without cerebellar and putaminal atrophy may suggest MSA. </li></ul><ul><li>MRI may show= </li></ul><ul><li>: A hyper intense rim at the lateral edge of the dorsolateral putamen, </li></ul><ul><li>:‘Hot cross bun' sign in the pontine basis (PB). </li></ul><ul><li>However neuro imaging may entirely be normal. </li></ul>
  38. 38. Symmetrical neurodegenerative disorder Progressive Supranuclear Palsy (Steele-Richardson-Olszewski Syndrome)  <ul><li>Commonly misdiagnosed as PD. </li></ul><ul><li>The median age of onset is 55-70 years. </li></ul><ul><li>Involves the trunk and neck rather than the limbs , causing early postural and gait instability with falls and a dystonic posture where the trunk is flexed but the neck extended . </li></ul><ul><li>Any elderly patient with truncal or neck rigidity either in the absence of or with only mild limb involvement and impaired postural reflexes leading to backward falls should be suspected of having PSP. </li></ul>
  39. 39. Symmetrical neurodegenerative disorder Progressive Supranuclear Palsy (Steele-Richardson-Olszewski Syndrome)  <ul><li>Later, limb rigidity and brady kinesia develop in a symmetrical fashion but rest tremor is uncommon. </li></ul><ul><li>Hyper reflexia and extensor plantars. </li></ul>
  40. 40. Symmetrical neurodegenerative disorder Progressive Supranuclear Palsy (Steele-Richardson-Olszewski Syndrome)  <ul><li>Voluntary gaze problems are pathognomonic but may be a late feature or even absent. </li></ul><ul><li>PSP accounts for 75% cases of palsies of supra nuclear gaze . </li></ul><ul><li>Difficulty with reading because of problems scanning the printed text may be a presenting feature. </li></ul><ul><li>Impaired volitional saccades maybe brought out by asking the patient to look up and down voluntarily or left and right, in the absence of a target. </li></ul><ul><li>This failure of voluntary down or lateral gaze corrects when the patient's eyes are centrally fixated and their head passively tilted backwards or rotated. </li></ul><ul><li>Reflex saccades and pursuit eye movements (become slow with saccadic intrusions) are impaired at a later stage. </li></ul>
  41. 41. Symmetrical neurodegenerative disorder Progressive Supranuclear Palsy (Steele-Richardson-Olszewski Syndrome)  <ul><li>Later, nystagmus and frank oculoparesis may occur causing the patient to complain of diplopia. Square wave jerk on central fixation become evident. </li></ul><ul><li>In PSP, the optokinetic reflex is lost early with a sustained deviation of the eyes rather than saccades occurring on viewing a striped rotating drum. </li></ul><ul><li>The combination of neck extension and a down gaze palsy predisposes PSP patients to falls, particularly when descending stairs. </li></ul><ul><li>&quot;sloppy tie sign &quot; as the patient cannot look down to keep food from his plate on his fork while conveying it up to his mouth and so drops it on his tie. </li></ul><ul><li>Also a staring expression maybe caused by eyelid retraction. This characteristic pattern of involvement differentiates it from IPD where ocular movements are initially spared. </li></ul>
  42. 42. Symmetrical neurodegenerative disorder Progressive Supranuclear Palsy (Steele-Richardson-Olszewski Syndrome)  <ul><li>The bulbar involvement is early with initially a nasal spastic dysarthria (leads to growling and groaning) and hypophonia, followed by dysphagia. </li></ul><ul><li>Urinary urgency, urge incontinence and constipation are frequently present, though postural hypotension is rare. </li></ul>
  43. 43. Symmetrical neurodegenerative disorder Progressive Supranuclear Palsy (Steele-Richardson-Olszewski Syndrome) <ul><li>Cognitive impairment in PSP mostly involves frontal lobe functions. </li></ul><ul><li>Depression and frontal lobe impairments occur early in the disease. </li></ul><ul><li>Memory,language and praxis deficits are seen later in the disease. </li></ul><ul><li>Perseveration may be particularly obvious in speech, with repetition of syllables and words (palilalia) or even of whole phrases (palilogia). </li></ul>
  44. 44. Symmetrical neurodegenerative disorder Progressive Supranuclear Palsy (Steele-Richardson-Olszewski Syndrome) <ul><li>Limb apraxia is generally symmetrical and patients show difficulties imitating postures ( ideomotor apraxia ) and pantomiming patterns of limb movements ( ideational apraxia ). </li></ul><ul><li>Eyelid opening apraxia can occasionally be present, patients taking seconds or even minutes to open their eyes volitionally after eye closure. Personality changes are common in PSP and emotional lability can cause patients to oscillate inappropriately between episodes of laughing and crying. </li></ul><ul><li>In end stage of the disease grasp and pout reflexes can be elicited. </li></ul><ul><li>A poor levodopa response is usual though high doses can be beneficial initially. As with MSA, amantadine can be useful where levodopa is ineffective or poorly tolerated. </li></ul>
  45. 45. Symmetrical neurodegenerative disorder Vascular Parkinsonism <ul><li>Cerebrovascular disease is an important cause of an apparent akinetic rigid syndrome in the elderly and responsible for 3-6% of cases of parkinsonism. </li></ul><ul><li>An extra pyramidal syndrome characterized by =lower body parkinsonism may occur as a complication of cerebro vascular disease, even in the absence of recognized strokes. </li></ul><ul><li>These patients are generally elderly and often hypertensive. </li></ul><ul><li>The gait is short-stepped but often wide-based unlike PD and postural stability may be impaired. </li></ul>
  46. 46. Symmetrical neurodegenerative disorder Vascular Parkinsonism <ul><li>Start hesitation and freezing may occur, as in Parkinson's disease, but above the waist there is a striking absence of true parkinsonism. </li></ul><ul><li>Thus, the voice and facial expression are lively and well modulated, the arms are used freely in spontaneous gesture, rest tremor is absent, there is no fatigue or decrement of alternating movements and the posture is usually upright. </li></ul><ul><li>An acute onset, more rapid or stepwise progression, presence of multiple vascular risk factors and absence of sustained response to levodopa therapy are useful differentiating features from Parkinson' disease. </li></ul>
  47. 47. Symmetrical neurodegenerative disorder Vascular Parkinsonism <ul><li>Imaging often shows = </li></ul><ul><li>:BG lacunae or white matter change, </li></ul><ul><li>:Sometimes hydrocephalus, </li></ul><ul><li>:Rarely cerebral tumor can give rise to a broadly similar picture. </li></ul><ul><li>However it is important to recognize that people with Parkinson's disease can have concomitant cerebro vascular disease. </li></ul>
  48. 48. Hereditary Causes of Akinetic Rigid Syndrome Diseases with Akinetic rigid syndrome as a major component <ul><li>Dopa responsive dystonia (DYT5). </li></ul><ul><li>:Usually presents in childhood and adolescence with foot </li></ul><ul><li>dystonia, diurnal fluctuations and frequent falls. </li></ul><ul><li>:Exquisitely responsive to small doses of levodopa, </li></ul><ul><li>:Do not develop motor fluctuations even in advanced </li></ul><ul><li>disease. </li></ul>
  49. 49. Hereditary Causes of Akinetic Rigid Syndrome Diseases with Akinetic rigid syndrome as a major component <ul><li>Rapid onset dystonia parkinsonism </li></ul><ul><li>:A rare autosomal dominant disorder with acute -subacute onset over hours to weeks. </li></ul><ul><li>:The typical symptoms are combined dystonia, levodopa unresponsive parkinsonism, bulbar and arm involvement as compared to legs. </li></ul><ul><li>X-linked dystonia parkinsonism (Lubag's disease ) has been described in middle-aged patients from Philippines. </li></ul><ul><li>Dementia-parkinsonism -amyotrophy complex is an autosomal dominant disorder characterized by frontal lobe type of behavior disorder, cognitive impairment and amyotrophy. </li></ul>
  50. 50. Hereditary Causes of Akinetic Rigid Syndrome Diseases with Akinetic rigid syndrome as a minor component <ul><li>Wilson’s disease </li></ul><ul><li>In children and young adults WD is an important cause of akinetic rigid syndrome. </li></ul><ul><li>It is an autosomal recessive disorder of copper metabolism due to defect excretion of copper by liver. </li></ul><ul><li>The patients with neurological WD present in second or third decade. </li></ul><ul><li>It typically presents with dystonia, rigidity, tremor, bradykinesia, drooling, dysarthria, dysphagia, ataxia, unsteady gait and mental deterioration. </li></ul><ul><li>There may be characteristic wing beating tremor, though all categories of parkinsonian tremors are seen. </li></ul>
  51. 51. Hereditary Causes of Akinetic Rigid Syndrome Diseases with Akinetic rigid syndrome as a minor component <ul><li>Huntington disease </li></ul><ul><li>HD is a autosomal dominant disorder of trinucleotide repeats characterized by chorea, behavior changes and cognitive impairment. </li></ul><ul><li>However HD often in patients younger than 20 years and rarely in adults (Westphal variant) may present as an Akinetic rigid syndrome with dystonia. </li></ul><ul><li>Even in atypical HD in late stages akinesia and rigidity may be the dominant features. </li></ul><ul><li>Additionally impairment of sustained voluntary movements, motor restlessness, gait abnormalities, abnormal saccadic eye movements and signs of bulbar dysfunction dysphagia and dysarthria may be seen in this disease </li></ul>
  52. 52. <ul><li>Others= </li></ul><ul><li>:Dentatorubral pallidoluysian atrophy (DRPLA), </li></ul><ul><li>:Hallervorden Spatz disease, </li></ul><ul><li>:Spinocerebeller ataxia (SCA) 2, 3 , 6 and 17 </li></ul><ul><li>:Neuroacanthocytosis. </li></ul>
  53. 53. Secondary Akinetic Rigid Syndromes (Drugs) <ul><li>Drugs that deplete presynaptic dopamine stores = :Reserpine </li></ul><ul><li>:Tetrabenazine </li></ul><ul><li>Block dopamine receptors = </li></ul><ul><li>:Phenothiazines (chlorpromazine), </li></ul><ul><li>:Butyrophenones (haloperidol), </li></ul><ul><li>:Thioxanthines (flupenthixol) </li></ul><ul><li>:Benzamides (sulpiride) </li></ul><ul><li>Neuroleptics cause parkinsonian symptoms with clinical signs in 20-40% patients </li></ul>
  54. 55. Secondary Akinetic Rigid Syndromes (Toxins) <ul><li>MPTP. </li></ul><ul><li>Ethanol. </li></ul><ul><li>Methanol. </li></ul>
  55. 57. Secondary Akinetic Rigid Syndromes (Metabolic and autoimmune) <ul><li>Acquired liver diseases. </li></ul><ul><li>Hashimoto’s thyroiditis. </li></ul><ul><li>EPM. </li></ul><ul><li>Autoimmune-APAS. </li></ul><ul><li>SCLC. </li></ul>
  56. 58. Secondary Akinetic Rigid Syndromes Infections and post-infectious Akinetic rigid syndromes <ul><li>Encephalitis lethergica. </li></ul><ul><li>SSPE. </li></ul><ul><li>JE. </li></ul><ul><li>PM-Mycoplasma pneumoniae, </li></ul><ul><li>TBM. </li></ul><ul><li>Kuru,CJD,GSS. </li></ul>
  57. 59. Secondary Akinetic Rigid Syndromes (Misc) <ul><li>Trauma=Dementia pugilistica. </li></ul><ul><li>Temporal/frontal lobe glioma. </li></ul><ul><li>Primary CNS lymphoma, </li></ul><ul><li>Mesencephalic cyst. </li></ul><ul><li>Glioblastoma. </li></ul><ul><li>Astrocytoma. </li></ul><ul><li>Hydrocephalus. </li></ul><ul><li>Psychogenic. </li></ul>
  58. 60. Causes <ul><li>Electromagnetic, Physics, trauma, Radiation Causes </li></ul><ul><ul><li>Hypothermia, accidental/exposure </li></ul></ul><ul><li>Infectious Disorders (Specific Agent) </li></ul><ul><ul><li>Encephalitis, Eastern equine </li></ul></ul><ul><ul><li>Tetanus </li></ul></ul><ul><ul><li>Creutzfeld-Jakob disease </li></ul></ul><ul><ul><li>Parkinsonism, postencephalitis type </li></ul></ul><ul><li>Metabolic, Storage Disorders </li></ul><ul><ul><li>Kernicterus </li></ul></ul><ul><li>Congenital, Developmental Disorders </li></ul><ul><ul><li>Myoclonic dystonia/DYT11 (11q23) </li></ul></ul>
  59. 61. Causes <ul><li>Hereditary, Familial, Genetic Disorders </li></ul><ul><ul><li>Oromandibular facial dystonia syndrome </li></ul></ul><ul><ul><li>Huntington's chorea </li></ul></ul><ul><ul><li>Paraplegia, spastic hereditary </li></ul></ul><ul><ul><li>Canavan disease </li></ul></ul><ul><ul><li>Dystonia musculorum deformans </li></ul></ul><ul><ul><li>Leukodystrophy , Krabbe </li></ul></ul><ul><ul><li>Myotonia atrophica ( Steinert's disease) </li></ul></ul><ul><ul><li>Myotonia congenita ( Thomsens d.) </li></ul></ul><ul><ul><li>Olivopontocerebellar degeneration </li></ul></ul><ul><ul><li>Pallidopyramidal hereditary syndrome </li></ul></ul><ul><ul><li>Parkinsonism, juvenile, of Hunt </li></ul></ul><ul><ul><li>Torsion dystonia , primary/idiopathic </li></ul></ul><ul><ul><li>Familial Basal ganglion calcification ( Fahr's syndrome) </li></ul></ul>
  60. 62. Causes <ul><li>Usage, Degenerative, Necrosis, Age Related Disorders </li></ul><ul><ul><li>Neurologic degenerative disorder </li></ul></ul><ul><ul><li>Parkinson's disease (paralysis agitans ) </li></ul></ul><ul><ul><li>Dementia, Lewy -body type </li></ul></ul><ul><ul><li>Parkinsonism-dementia complex </li></ul></ul><ul><ul><li>Primary lateral sclerosis </li></ul></ul><ul><ul><li>Progressive supranuclear palsy </li></ul></ul><ul><ul><li>Metachromatic leukodystrophy </li></ul></ul><ul><ul><li>Shy- Drager syndrome </li></ul></ul><ul><ul><li>Gerstmann-Straussler-Scheinker (GSS) Disease </li></ul></ul><ul><ul><li>Multiple System Atrophy/Shy Dragers plus </li></ul></ul>
  61. 63. Causes <ul><li>Relational, Mental, Psychiatric Disorders </li></ul><ul><ul><li>Schizophrenia, catatonic type </li></ul></ul><ul><ul><li>Catatonia, lethal type </li></ul></ul><ul><ul><li>Catatonia </li></ul></ul><ul><li>Anatomic, Foreign Body, Structural Disorders </li></ul><ul><ul><li>Basal ganglion hemorrhage </li></ul></ul><ul><ul><li>Basal ganglion mass lesion </li></ul></ul>
  62. 64. Causes <ul><li>Vegetative, Autonomic, Endocrine Disorders </li></ul><ul><ul><li>Seizures </li></ul></ul><ul><ul><li>Malignant hyperthermia </li></ul></ul><ul><li>Reference to Organ System </li></ul><ul><ul><li>Motor neuron disease </li></ul></ul><ul><ul><li>Parkinsonian syndrome </li></ul></ul><ul><ul><li>Basal ganglion lesion/disorder </li></ul></ul><ul><li>Idiopathic, Unclassified Disorders </li></ul><ul><ul><li>Stiff-man syndrome </li></ul></ul>
  63. 65. Causes <ul><li>Drugs </li></ul><ul><ul><li>Monoamine oxidase inhibitor Administration/Toxicity </li></ul></ul><ul><ul><li>Phenothiazine dystonic /toxicity </li></ul></ul><ul><ul><li>Drug induced Dystonia reaction/acute. </li></ul></ul><ul><ul><li>Monoamine oxidase inhibitor crisis </li></ul></ul><ul><ul><li>Methaqualone ( Sopor /Quaalude) Administration/Toxicity </li></ul></ul><ul><ul><li>Camphor tree/ camphora herbal/intake </li></ul></ul><ul><ul><li>Hyperserotoninemia /serotonin syndrome </li></ul></ul>
  64. 66. Causes <ul><li>Poisoning (Specific Agent) </li></ul><ul><ul><li>Amphetamine/Speed toxidrome /Acute </li></ul></ul><ul><ul><li>Ecstacy drug/MDMA/ MethylenedioxyMA </li></ul></ul><ul><ul><li>Phencyclidine (Angel dust) intoxication </li></ul></ul><ul><ul><li>Methamphetamine/Speed/Amphetamine chronic/abuse </li></ul></ul><ul><ul><li>Black widow spider bite </li></ul></ul><ul><ul><li>Camphorated oils poisoning </li></ul></ul><ul><ul><li>Carbon monoxide poisoning/exposure </li></ul></ul><ul><ul><li>Metaldehyde poisoning </li></ul></ul><ul><ul><li>Ammonia exposure/inhalation </li></ul></ul><ul><ul><li>Haff disease/poisoning </li></ul></ul><ul><ul><li>Strychnine poisoning </li></ul></ul><ul><ul><li>Trichothecene mycotoxin /weapon exposure </li></ul></ul><ul><ul><li>Manganese poisoning </li></ul></ul><ul><ul><li>MPTP/ Meperidine designer drug/synthetic </li></ul></ul><ul><ul><li>Nux vomica/Strychnos herbal/intake </li></ul></ul><ul><li>Organ Poisoning (Intoxication) </li></ul><ul><ul><li>Neuroleptic malignant syndrome </li></ul></ul>