Canadian Society of Internal Medicine Annual Meeting 2018 Banff, AB W14. Movement Dis isorders for r the In Internist Dr. . David ide Mart rtino, PhD MD Movement Disorders Program, DCNS, University of Calgary
CSIM Annual Meeting 2018 The following presentation represents the views of the speaker at the time of the presentation. This information is meant for educational purposes, and should not replace other sources of information or your medical judgment. “I have no conflicts to declare” Conflict Disclosures LEARNING OBJECTIVES 1. Identify the type of tremor in patients with various presentations. 2. Determine which investigations are required in the evaluation of patients with new onset ataxic gait. 3. Manage restless legs syndrome and know which medications should not be used.
LEARNING OBJECTIVE 1 IDENTIFY THE TYPE OF TREMOR IN PATIENTS WITH VARIOUS PRESENTATIONS
Assign to this video one of the three possible syndromic diagnoses of tremor: A. Essential tremor B. Parkinsonian tremor C. Cerebellar tremor
Diagnosis is clinical • Topography : Tremors can occur in any joint or muscle that is free to oscillate. Symmetry on the two sides can be important. • Frequency : For exact frequency measurement a signal analysis of accelerometric or EMG recordings is necessary. However, with some experience the three main frequency ranges can be separated on inspection: high (>7 Hz), medium (4-7 Hz) and low (<4 Hz). • Additional symptoms : e.g. parkinsonian syndrome, cerebellar ataxia or dystonia
… and activation • Resting tremor occurs when the muscles of the affected body part are not voluntarily activated. Rest tremor must cease or be suppressed when a voluntary movement is initiated or performed. • A ction tremor is any tremor that is produced by voluntary contraction of muscles and covers: • Postural tremor while voluntarily maintaining a position; • Kinetic tremor during voluntary movement. • Simple kinetic tremor is seen during purposeless voluntary movements. • Goal-directed tremor (most commonly labeled as intention tremor ) occurs when a target is reached. • Rarer forms of action tremor occur only during certain positions or tasks, e.g. • task or position specific tremor • isometric tremor
Assign to this video one of the three possible syndromic diagnoses of tremor: A. Essential tremor B. Parkinsonian tremor C. Cerebellar tremor
Assign to this video one of the three possible syndromic diagnoses of tremor: A. Essential tremor B. Parkinsonian tremor C. Cerebellar tremor
What is the most likely cause of this tremor? A. Idiopathic dystonia B. Exposure to neuroleptics (first generation antipsychotics) C. Dystonia D. Functional movement disorder E. Lithium exposure
What is the most likely cause of this tremor? A. Parkinson’s disease B. Hyperthyroidism C. Dystonia D. Functional movement disorder E. Cerebellar lesion or degeneration
LEARNING OBJECTIVE 2 DETERMINE WHICH INVESTIGATIONS ARE REQUIRED IN THE EVALUATION OF PATIENTS WITH NEW ONSET ATAXIC GAIT
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? Metronidazole-induced acute ataxia [Hari et al. 2013]
Age at onset With vestibular Viral infections: VZV (children)- symptoms/signs? EBV (adults) (nystagmus, vertigo, MS Persistent others) Cognitive/speech changes – tremor – SREAT Look for oculomotor Lithium myoclonus – seizures – sleep probl - psychosis abnormalities Phenytoin Acute- Paraneoplastic 5-fluorouracil Cognitive changes – Capecitabine Subacute Wernicke CEREBELLAR nystagmus/abducens palsy/papilloedema Cytosine arabinoside Stroke Onset Metronidazole Drugs/Toxins Amiodarone Drug history Hg-Pb-Mn (CT)/MRI Toluene-benzene Thyroid antibodies derivatives (anti-TPO + anti-Tg) Genetic episodic ataxias Alcohol-malnutrition Episodic MS If appropriate Stroke Paraneoplastic panel (anti- Hu, anti-Yo, anti-Ri, anti-CMV) CSF
Episodic ataxias (aut dom) Attacks precipitated by stress or emotions EA1 (KCNA1) EA2 (CACNA1A) Delayed rectifier P/Q-type calcium channel alpha 1A subunit potassium channel, Kv1.1 Onset : late childhood Onset : infancy to early adulthood to adolescence Attacks : secs-mins Attacks : hours to days, with vertigo, nausea, ± headache Interictal myokimia or Interictal downbeat nystagmus, ataxia and neuromyotonia with rarely dystonia stiffness and weakness during Responds to acetazolamide or 4- attacks aminopyridine Responds to Allelic to SCA6, IGE, FHM type 1, congenital ataxia and acetazolamide hemiplegic migraine with cerebral edema
Cognitive – depression Subacute - neuropathy – spastic para/tetraparesis combined Associated with Vitamin deficiency (B12, E, degeneration proprioceptive sensory folic acid) loss de-afferentation Neurosarcoidosis ataxia Vertebrobasilar insufficiency Acute- CDDP, cisplatin, carboplatin, Subacute Persistent Syphilis oxaliplatin Onset Doxorubicin Drugs/Toxins Bortezomib Sensory Suramin sodium • Drug history polyneuropathies Thallium • Vitamin B12 (MMA-Hcy) Penicillin and E • MRI spine • CXR/CT chest + serum markers of sarcoidosis (SAA, sIL-2R, ACE, KL-6) • Syphilis serology • NCS/CSF, anti-GQ1b
Age at onset Cognitive/speech SREAT changes – tremor – myoclonus – seizures – sleep probl - psychosis Sporadic Paraneoplastic MRI Rapid Thyroid progression antibodies CSF/EEG Cognitive – psychosis CJD and agitation - depression Inherited GSS (PRNP gene: P102L most frequently )
What is the most likely diet that has improved this patient’s ataxia? A. Low-protein diet B. Ketogenic diet C. Feingold diet D. Atkins diet E. Gluten-free diet [Hernàndez-Lahoz et al. 2014]
What is the most likely diet that has improved this patient’s ataxia? A. Low-protein diet B. Ketogenic diet C. Feingold diet D. Atkins diet E. Gluten-free diet [Hernàndez-Lahoz et al. 2014]
66-yr old woman 4-year hx gait and hearing problems Forgetfulness – mood No hx of trauma or intradural surgery Babinski on the right Serum iron mildly decreased Serum ferritin mildly increased [Bae et al. J Mov Disord 2014] What is the most likely cause for this patient’s ataxia? A. Folic acid deficiency B. Neuroferritinopathy C. Superficial siderosis of the CNS D. Spontaneous intracranial hypotension E. Vitamin E deficiency
66-yr old woman 4-year hx gait and hearing problems Forgetfulness – mood No hx of trauma or intradural surgery Babinski on the right Serum iron mildly decreased Serum ferritin mildly increased [Bae et al. J Mov Disord 2014] What is the most likely cause for this patient’s ataxia? A. Folic acid deficiency B. Neuroferritinopathy C. Superficial siderosis of the CNS D. Spontaneous intracranial hypotension E. Vitamin E deficiency
SLOW PROGRESSION ATAXIAS Sporadic Alcohol-related* chronic thiamine deficiency; 11-27% of chronic alcohol users // gait and LL>UL and speech // vermal atrophy Gluten ataxia * anti-TG6 IgA (73%) // most have cerebellar atrophy // responds to gluten-free diet // PNpathy in 40% Metabolic subacute combined degeneration* // vit.E, vit.B1 // hypothyroidism and hypoparathyroidism Toxic lithium, phenytoin, 5-FU, capecitabine, citarabine, metronidazole and other azoles, amiodarone, heavy metals and solvents (Hg, Pb, Mn, toluene/benzene derivatives) Infections neurosyphilis*, Lyme*, Whipple’s Superficial siderosis +hearing loss, pyramidal, cognitive, seizures, visual loss, hyposmia MSA-C and heredodegenerative ataxias
LEARNING OBJECTIVE 3 MANAGE RESTLESS LEGS SYNDROME AND KNOW WHICH MEDICATIONS SHOULD NOT BE USED
[from sleepdisorders.sleepfoundation.org CASE #1 National Sleep Foundation] 34-yr old nurse referred for early insomnia (on bad days latency of up to 2-3 hrs), non-refreshing sleep (frequent awakenings, 3-5 times per night, with achy legs; partner prefers to sleep in different bed), and malaise throughout the day Onset in late adolescence, but as a child she suffered from «growing pains» in her legs and feeling that her legs were only loosely attached to her body and at times hard to control Aches and irritating discomfort in her legs during the evening, initially attributed to stress and shiftwork – urgency to move her legs to alleviate the discomfort, especially when lying or sitting down (typically not occurring around a daytime nap) Relaxation training, sleep health habits, prescription hypnotics (temazepam 30mg hs) unsuccessful PSG observation of PLMS, with short arousals in 70% of them 5 cups of strong coffee throughout the day Serum ferritin = 24 ng/mL
How do we approach this patient with RLS? Key questions 1. Have we ruled out the main causes of secondary RLS? What are these? o Medical conditions : iron deficiency ( Ferrous sulfate + vit.C), end-stage renal disease/on hemodialysis (vit.C + E suppl – ropinirole, L-dopa, exercise), obesity, COPD, DM, IBS o Neurological diseases : small fibre neuropathies, PD o Drugs : DR blockers, NSRIs, AEDs (e.g. zonisamide) o Pregnancy 2. Is RLS sufficiently severe to warrant specific treatment? o Strong evidence (AAN Level A) pramipexole [0.125, 0.25-0.5mg] , rotigotine patch [1, 1-3mg] , gabapentin enacarbil [600, 600mg] o Moderate evidence ropinirole [0.25, 0.25-4mg], pregabalin * , IV ferric carboxymaltase* [500mg given twice 5 days apart] o Weak evidence L-dopa*
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