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What are the presenting complaints in HYPOkalemic periodic paralysis?
What is the inheritance and where is the mutation?
How do you treat?
- Episodic weakness without myotonia
- Lasts for hours to days!
- Often bought on by exercise, awakening from sleep, cold temperatures or eating high carb/sodium meals.
- Autosomal dominant - SCN4A or CACNA1S
- Carbonic anhydrase inhibitors or potassium sparing diuretics
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What are the presenting complaints in HYPERkalemic periodic paralysis?
What is the inheritance and where is the mutation?
How do you treat?
- Episodic weakness without myotonia
- Lasts for minutes to hours
- Bought on by fasting or exercise
- AD - SCN4A
- Thiazide diuretics
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Which periodic paralysis affect asian men and how do you treat?
- Thyrotoxic periodic paralysis
- Treat with propranolol
- KCNJ18 mutation
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PMP22 deletion causes?
And PMP 22 duplication causes?
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Where and what is the histological abnormality in HSMN 1A? What NCS/EMG changes does this cause?
- This is a demyelinating neuropathy.
- Causes onion-bulbing of Schwann cells due to repeated episodes of remyelination.
- Causes decrease conduction velocity with no conduction block.
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What is the inheritance patterns and neuropathy type of the HMSNs?
- Type 1 - AD - Demyelinating
- Type 2 - AR - Axonal
- Type 3 - AR - Demyelinating
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Medications that worsen MG?
- Fluoroquinolones
- All the anti-arrhythmics
- Aminoglycosides
- Magnesium
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What is the most sensitive diagnostic test for MG?
What does it show?
- Single fibre EMG
- Shows jitter and blocking
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What are the signs of neonatal myasthenia, what causes them and how do you manage?
- Weakness, resp failure, arthrogryposis
- Will resolve in a month
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What is the main histopathological finding in steroid myopathy?
Typer 2 fibre atrophy
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The EMG in a patient with myopathy is likely to show?
Early motor unit recruitment
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Presentation of IBM?
- Over the age of 50.
- M>F.
- Proximal wasting in the lower limbs and distal in the upper.
- Often has bulbar involvement
- Elevated CK
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Presentation of Dermatomyositis?
- F>M
- Associated rash on face/trunk/knuckles (gottron's)
- Increased risk of malignancy
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Dermatomyositis
Which Antibody is associated with it?
What is the pathological finding on muscle biopsy?
- Anti-Jo1
- Perifasicular atrophy
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IBM
What is the pathological finding?
Rimmed vacuoles best seen with trichrome stain.
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Anti GM1 antibodies are associated with...
- Campylobacter jejuni infections
- MMN
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What does Dapsone cause?
Motor axonal neuropathy
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What does diptheria do?
- Causes a demyelinating polyneuropathy similar to GBS
- AND a pseudomembranous pharyngitis
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How does tetanus cause opisthotonus?
Block the release of glycine and GABA
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What is the typical presentation of spinobulbar muscular atrophy?
- Kennedy's disease
- Typically bulbar symptoms early, then widespread wasting and weakness.
- Prominent perioral fasiculations
- Gynaecomastia
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Spinobulbar muscular atrophy gene and what is the abnormality?
- Androgen receptor gene
- X linked recessive
- Trinucleotide repeat disorder - CAG
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A well man presents with severe right shoulder pain followed several days later by right arm weakness? What provokes this condition? What is the heredity of the genetic form?
- Parsonage-Turner
- Idiopathic brachial neuritis
- Gets better with time
- Commonly provoked by excessive exercise, childbirth, infection, vaccination, surgery and IVDU.
- The hereditary form is Autosomal dominant
- Can also affect the lumbosacral plexus?
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What is the histopathological finding in HNPP?
- Tomaculi! Sausage like areas of thickening!
- PMP 22 deletion
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FSHD and OPMD inheritance patterns?
Both autosomal dominant
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What are the pathological findings in ALS?
- Atrophy in the spinal cord and motor strip.
- Loss of pyramidal betz cells in the cortex and alpha motor neurons in the anterior horn.
- Bunina bodies are found in the cell bodies of the LMN.
- Muscle pathology shows muscle fibre type grouping.
- EMG shows widespread denervation
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How does riluzole work?
Inhibits glutamate release.
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What is the gene affected in Myotonic dystrophy? What is the inheritance?
- DMPK gene - CTG trinucleotide repeat with anticipation
- Autosomal dominant
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What lab test confirms Pompe's?
What is the other name for it and what accumulates in the body?
What pathology stain is used to detect this abnormal accumulation?
- Dried spot test
- Glycogen filled lysosomes - they stain with PAS (periodic acid-schiff)
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What is the presentation of adult onset pompe's?
What are the EMG findings?
- Onset in 2nd-4th decade
- Weakness of trunk, proximal muscles and diaphragm.
- Electrical myotonia without clinical myotonia
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What is a Martin-Gruber anastamosis?
Anatomical variant in which the median nerve innervates muscles in the ulnar nerve distribution.
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What does the Lateral cord of the brachial plexus do?
Elbow and wrist flexion and lateral forearm sensation
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What does the posterior cord of the brachial plexus do?
- Elbow, wrist and finger extension and shoulder abduction
- Sensation to posterior hand and arm.
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What does the medial cord do?
- Thumb and finger flexors, intrinsic hand muscles
- Medial forearm sensation.
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What can make MMN worse?
Steroids
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What is the presentation of MMN?
Slowly progressive, asymmetric, multifocal weakness without very much wasting.
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What is Kennedy's disease?
- A type of Spinal muscular atrophy.
- X-linked disorder that presents with Bulbar weakness, prominent perioral fasiculations and androgen sensitivity (gynaecomastia, testicular atrophy, azoospermia)
- CAG repeat - polyglutamine
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What is Brown-Vialetto-van Laere sydrome
- A type of SMA
- Onset in adolescence
- Progressive bulbar palsy with Bilateral sensorineural hearing loss
- tongue atrophy, fasiculations and dysphagia
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What is Hirayama's disease?
- Juvenile monomelic amyotrophy
- Predominantly affects C7-T1 nerve roots
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Spinal muscular atrophy - Key presenting features?
Weakness, wasting and fasiculations.
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SMA underlying gene mutation? Whats its role
SMN gene involved in mRNA splicing
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When do the SMAs present and with what characteristics?
- SMA 1 and 2 present in childhood
- SMA 3 - adulthood - usually with a CK 10x normal - also known as wohlfart-kugelberg-welander
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What are the characteristics of FSHD? How does it differ from the other muscular dystrophies?
- Descending, asymmetrical weakness involving face, scapula, upper arm, lower leg and hip girdle.
- Differs from the others due to prominent PAIN
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What conditions are associated with FSHD?
- Retinal vasculopathy
- Sensorineural hearing loss
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Characteristics of Oculopharyngeal muscular dystrophy?
- More common in French Canadians and Bukhara Jews
- Autosomal dominant condition
- Presents in 5th/6th decade of life with progressive ptosis and dysphagia
- Classic muscle biopsy finding of Intranuclear tubular filaments
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How do you differentiate cauda equina from conus syndrome?
- Conus is symmetrical with mixed signs and early sphincter involvement
- Cauda is asymmetric with LMN signs only and late sphincter involvement
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Foot drop with preserved ankle inversion?
Its the common peroneal!!
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What is meralgia paraesthetica? What causes it?
- Severe painful paraesthesia over the lateral thigh
- Caused by compression of the lateral femoral cutaneous nerve (innervated by L2/3)
- Caused by obesity, pregnancy, tight belts, tumors, prolonged sitting, diabetes and excessive wt loss.
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What is associated with critical illness myopathy?
What is the histological abnormaility?
- Associated with Steroid and NM blocking drug usage
- Selective loss of myosin from myofibrils
- "Myosin losing myopathy"
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What is the EMG pattern in Myotonic dystrophy?
- Myotonic discharges with waxing and waning amplitude
- The dive bomber pattern
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A patient with cold and exercise induced muscle stiffness with intermittent paralysis?
- Paramyotonia congenita.
- Its 'para' because it gets worse with exercise rather than better
- Caused by a mutation in SCN4A gene
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Which condition has no clinical myotonia but does have electrical myotonia?
Pompe's - acid maltase deficiency
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What is McArdles disease?
- Myophosphorylase deficiency.
- Exercise intolerance from childhood including myalgia, cramps, normal exam, normal lactate
- Raised CK and Myoglobinuria
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Whats is the most sens and specific way to detect carpal tunnel?
median sensory nerve conduction
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What is the most common mitochondrial myopathy?
- Kearns-Sayre-Syndrome
- Progressive external opthalmoplegia
- Pigmentary retinopathy
- Cerebellar ataxia
- High CSF protein
- Leukoencephalopathy and basal ganglia calcification
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Rough differences in the CMTs?
- CMT1 = Autosomal dominant and demyelinating
- CMT2 = Autosomal dominant and axonal
- CMT3 = AD Childhood onset with delayed motor milestones and severe demyelination
- CMT4 = Autosomal recessive
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What carries a worse prognosis for MND?
- A definite diagnosis of MND based on revised El Escorial criteria
- Bulbar onset,
- Presentation after 80 years of age and
- Lower FVC at diagnosis
Family history of MND does not affect prognosis.
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What carries a better prognosis for MND
- Longer delay from onset to diagnosis,
- Onset before the age of 40 years and
- Spinal onset of disease carry a better prognosis.
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Primary lateral sclerosis?
- Progressive upper motor neurone disorder,
- Often beginning in the 5-6th decade of life,
- Accounts for 1-4% of MND.
- More benign prognosis than ALS.
- Symptoms usually start in the legs. Patients report stiffness, poor balance and falls.
- Bulbar symptoms can such as dysarthria and dysphagia eventually develop.
- Urinary dysfunction is sometimes reported.
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What differentiates PLS from ALS?
- Fasciculations and muscle atrophy are absent.
- More benign prognosis
- ALL UMN with stiff gait
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In MND - what is a better marker of resp insufficiency than FVC?
The sniff nasal pressure test
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Whats the recovery rate of Parsonage-Turner?
Only 10% make full recovery at 3 years
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Sub-acute autonomic failure?
- Autoimmune Autonomic failure.
- Half of cases are assoc with gnACHr (ganglionic nicotinic)
- Paraneoplastic forms are also seen in assoc with SCLC and Anti-Hu
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How does obturator neuropathy present?
- Decreased inner thigh sensation
- Weakness of hip adduction and rotation.
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Antibody associated with MMN?
GM1
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Antibody associated with PCB variant of GBS?
GT1a
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Other name for Stiff person syndrome?
Progressive encephalomyelitis with Rigidity and Myoclonus
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If Anti-AchR antibodies are negative, whats the chance of a thymoma?
<1%, Absence of ACHr antibodies has an NPV of <1%
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What is Bing-Neel Syndrome?
The presence of lymphoplasmacytoid cells with anaemia, IgM kappa monoclonal gammopathy, and peripheral neuropathy suggests a diagnosis of Waldenström’s macroglobulinaemia (WM). CNS involvement by malignant cells is a rare complication of WM referred to as Bing-Neel syndrome (BNS) which usually manifests a few years after the diagnosis of WM.
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Patient with a thymomectomy has worsening despite all the therapy? What do you do?
Repeat the CT chest - thymomas recur
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Which feature occurs in Para-neoplastic LEMS but not in normal LEMS?
Cerebellar ataxia
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Which chemotherapy agents cause Sensory ganglionopathy?
Platinum-based ones
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Which vitamin in excess can cause sensory ganglionopathy?
- Vitamin B6 - pyridoxine
- often used in body building diets
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SPG4 mutation
- Most common mutation found in adult onset
- Autosomal dominant Hereditary spastic paraplegia – accounts for 40%
- 20% of patients have cognitive impairment
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Sensorimotor symptoms in the lower limbs with Meningeal enhancement in a patient with advanced HIV?
CMV infection
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Risk factors for Crit.illnerss neuropathy/myopathy?
- Greater severity of multiorgan dysfunction,
- Female sex
- Hyperglycemia
- Prolonged mechanical ventilation (not prolonged time of illness before ventilation)
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What is the presenting feature of MNGIE?
What is the mutation that leads to it?
- Intestinal pseudo-obstruction.
- Also causes peripheral neuropathy, ptosis and opthalmoparesis.
- Caused by a mutation in the Thymidine phophorylase gene which is an autosomal gene but causes problems mostly in mtDNA.
- Can be thought of as a mitochondrial disorder in its presentation but is autosomal at a molecular level.
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What is the gene abnormality in FSHD?
- 95% of FSHD patients have Abberant expression of DUX4 – the fewer D4Z4 repeats you have, the more expression occurs.
- 5% have no problem with D4Z4 but instead have a mutation in SMCHD1 which allows the DUX4 gene to be read more easily
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When do you choose RIG over PEG?
When FVC is significantly reduced
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What is the most common SMA?
SMA type 1
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Whats the new kid on the block for SMN1 gene mutations?
- Onasemnogene abeparvovec
- one-off IV dose of AAV-9 delivered SMN1 gene replacement therapy.
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