This 52 twelvemonth old lady presented with the ailments of trouble in get downing with rhinal modulation of voice for the last 15 yearss and failing of all four limbs for the last 12 yearss. She became diagnostic about 15 yearss ago when she noticed nutrient acquiring stuck in pharynx while get downing. She besides noticed that the trouble in get downing was to both solids and liquids and while trying to get down liquids at that place was rhinal re.g.urgitation of fluids.
Analyze the symptom and how would you distinguish mechanical from neurogenic cause from dysphagia?
This patient has neurogenic dysphagia. The hints to presence of neurogenic dysphagia in a given patient include:
Presence of rhinal re.g.urgitation and coughing while get downing
Presence of voice alteration, nasal twang, gruffness of voice
Dysphagia to solids and liquids from oncoming
She besides gave history of rhinal modulation of voice for the last 15 yearss which bit by bit increased and household members found it hard to grok her address. She could non discourse for long and had to take intermissions in between sentences. This symptom became worse at the terminal of twenty-four hours and at presentation to the infirmary she could merely bring forth sounds.
What would be the localisation of the symptoms of neurogenic dysphagia and rhinal modulation of voice?
The syndrome of bulbar paralysis can be due to lesion at:
Brainstem affecting lower cranial nervus karyon
Nerve degree: As portion of multiple cranial and peripheral nervus paralysis e.g. GBS
At the neuro muscular junction e.g. myasthenia gravis, botulism, cobra bite
At musculus degree e.g. poly myositis/ dermatomyositis
Three yearss after the oncoming of the bulbar symptoms she developed symmetrical failing of all four limbs in that she had trouble in raising weaponries up to the shoulder and besides trouble in acquiring up from crouching place. However she was able to button apparels and interrupt chapati and besides there was no h/o slippers stealing off pess while walking.
Analyze her symptom and what can be the localisation of this symptom?
She has now developed proximal failing of all four limbs. Proximal failing of all four limbs can happen due to lesions at:
Anterior horn cell e.g. SMA
Polyradiculoneuropathy e.g. GBS, CIDP
Neuro muscular junction e.g. myasthenia
All her symptoms became worse at the terminal of twenty-four hours. The symptoms improved following remainder or slumber. They was patterned advance of failing over the last 12 yearss prior to presentation. At admittance she could walk merely 15m without support, was unable to acquire up from floor or lift arm above shoulder, was unable to get down solids or liquids and masticate difficult nutrient. No h/o double vision, drooping of palpebras, cervix falling frontward, sensory symptoms, instability or incoordination, loss of consciousness, concern or emesis or take a breathing trouble. No h/o fever, cough sore pharynx or grippe like symptoms, diarrhoea, exposure to drug or toxin, inoculation, Canis familiaris bite, recent surgery, roseola over face or organic structure or joint strivings or swelling.
To sum up, at the terminal of history, this 52 old ages old lady has presented with fatigable proximal failing of all limbs, rhinal modulation of voice and dysphagia of 15 yearss continuance with intermittent variableness.
What is the differential diagnosing on history?
Trouble in masticating solid nutrient like chapati, meat piece etc
Absence of optic musculus engagement which is a usual characteristic even at onset in most patients with myasthenia
Acute onset progressive symptoms
Acute onset progressive symptoms
Absence of optic musculus engagement
Trouble in masticating nutrient
Anterior horn cell engagement e.g. Motor neuron disease, secondary to malignancy
Rapid onset progressive symptoms
Absence of fasciculations on history
General scrutiny was everyday and there was no mark of respiratory trouble. Neurological scrutiny revealed rhinal modulation of voice with preserved joke physiological reaction. Ocular motions were normal. There were no lingua cachexia or fasciculations, cervix musculus failing was present. Motor system scrutiny revealed proximal musculus failing ( 4/5 ) with preserved physiological reactions. There were no fasciculations. Centripetal scrutiny was normal.
At the terminal of scrutiny which status can be safely be eliminated because of preserved physiological reactions?
Anterior horn cell engagement e.g. SMA ( non ALS where physiological reactions will be alert ) , secondary to malignancy
Can some bedside trials be done to set up fatigability?
Sustained up regard to bring on ptosis. The clip to development of ptosis in which the upper eyelid screens at least the upper 1/3 rd of the cornea.
Rapid horizontal saccades. The clip to development of double vision.
Forward arm abduction clip
Number of arm flaps before fatigue sets in
Probes including hemogram, chemical sciences, x-ray thorax, ECG, abdominal and pelvic ultrasound scrutiny were all normal. HIV was negative. Nerve conductivity surveies and EMG were normal. Insistent nervus stimulation trial showed a important decremental response. Neostigmine trial and acetylcholine receptor antibody ( AChR Ab ) were positive. CECT thorax was normal.
How is the neostigmine trial done?
The neostigmine trial is done in suspected patients with myasthenia gravis. The patient should non be on acetylcholine esterase inhibitor drugs. Baseline appraisal of patient is done utilizing definite clinical parametric quantities including ptosis clip, breath keeping clip, individual breath count, voice, get downing, frontward arm abduction clip, arm flaps and sit ups. Injection atropine 0.6 milligram IM is given followed 30 proceedingss subsequently by 1mg IM Injection Prostigmin. After another 30 proceedingss appraisal of the same clinical parametric quantities is done to document betterment.
Is there any other drug which can be used other than Prostigmin?
Edrophonium 2 milligram IV followed by 8 milligrams IV if no definite betterment occurs can be used in dominantly optic myasthenia. It is short moving drug with oncoming of action within 1-2 proceedingss which lasts for a few proceedingss merely.
In what per centum of patients can AChR Ab be positive?
Ocular 50-55 %
Generalized: 75-80 %
What is seronegative myasthenia?
AChR Ab negative myasthenia is seronegative myasthenia, 50 % of these have Anti MuSK antibody positive.
She was diagnosed as myasthenia gravis and managed with pyridostigmine 60 milligram TDS, Pediapred 20 milligram OD, Ca addendums and proton pump inhibitors. Initially ryles tube provenders were given to forestall aspiration and one time the swallowing improved these were discontinued. She showed important betterment with this therapy.
When get downing steroids what safeguards should one take?
About one tierce may hold some deterioration, the exact mechanism of which is unknown ; hence steroids should be started at a lower dosage and bit by bit built up. Patients who have get downing trouble or take a breathing trouble and in whom steroids are being started may necessitate to be admitted for observation for declining in the initial period.
What is crisis and what are the types of crisis?
If a patient develops respiratory hard which requires or has the possible to necessitate mechanical airing the patient is said to be in crisis. There are two types of crisis: myasthenic and cholinergic.
How to distinguish the two?
Presence of cholinergic effects will rule including squeamishness, sickness, purging, spasms, loose stool, and diarrhoea, increased unwritten and bronchial secernments. Theoretically, edrophonium 2 milligram IV may be given to look for any deterioration of symptoms in cholinergic crisis. However it is non routinely recommended.
How is myasthenic crisis treated?
In add-on to airing patients need to be managed with either plasmapheresis or endovenous Igs.
What can precipitate a crisis?
Stress, infection, medicines or surgery may precipitate crisis.
What are the indicants and response to thymectomy?
Any patient with generalized myasthenia and in the age group of 10 to 60 old ages will profit from thymectomy early in the class of the unwellness. Quality Standards Subcommittee of Americn Academy of Neurology conclude that myasthenia gravis patients undergoing thymectomy are twice every bit likely to accomplish medicine free remittal, 1.7 times likely to demo betterment in symptoms and 1.6 times likely to be symptom free.
Concluding Diagnosis: Myasthenia Gravis
Myasthenia Gravis is a common autoimmune status impacting the neuromuscular junction. This is different from congenital myasthenia which is due to familial abnormalcy of the neuromuscular junction. The usual age of oncoming in males is the fifth and 6th decennary while in females it occurs earlier. About two tierces of the patients present with optic symptoms at oncoming which include double vision and ptosis. Almost all of them will travel on to develop these symptoms within the first two old ages of unwellness. Presentation with bulbar symptoms histories for about one sixth of all patients. Our patient fell in the latter class. Myasthenia gravis is a treatable status. Not merely can the symptoms be relieved but the disease can be forced into remittal utilizing a combination of immunosuppression and thymectomy. Patient with myasthenia who are at high hazard of deceasing include those with respiratory trouble and/ or with bulbar failing. Bulbar failing may predispose them to aspiration. These are subsets of patients who should be identified and treated sharply when following up patients with myasthenia gravis.
Take Home Message
Different diseases, some of them treatable can show with bulbar paralysis with proximal musculus failing.
Myasthenia may show with sparing of optic musculuss.
Outline of probe and intervention of myasthenia gravis.
1. Drachman DB. Myasthenia Gravis and other diseases of the neuromuscular junction In: Fauci, Braunwald, Kasper Ed. Harisson & A ; acirc ; ˆ™s Principles of Internal Medicine 17 Thursday edition. McGraw Hill 2008: 2672-2677.
2. Drum sanders DB, Howard Jr JF. Disorders of neuromuscular transmittal In: Bradley WG, Daroff RB Ed. Neurology in Clinical Practice 5th edition. Butterworth Heinemann Elsevier 2008: 2383-2402.