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Case Conference Ruth C. Rubio, MD November 25, 2009 Case Presentation Chief Complaint: “I can’t control the muscles in my arms.” HPI: 11-year old male c/o brief episodes of spastic movement of arms, exacerbated by running and other activities. When he gets up suddenly or when he’s running, his arms flex and move around slowly similar to a snake. Eyes also move funny but legs are not involved. HPI: Usually lasts ~4 seconds. Started around a year ago but becoming more frequent. When he thinks about the movements, they were more likely to occur. No altered sensorium. No other symptoms. ROS: (+) occasional headaches (-) fever, staring spells, visual problems (-) cough, DOB, rhinorrhea, otorrhea (-) conjunctivitis, drooling (-) diarrhea, constipation (-) changes in UO (-) cyanosis PMH Allergic Rhinitis - on Nasonex Mild Persistent Asthma – no ICU, no ETT, no hospitalizations, on Flovent, Claritin, Albuterol prn Allergies: dust mites, pollen, roaches Birth History Born FT, NSVD, BW 8 lbs ½ ounces No complications Unremarkable nursery course Negative prenatal labs/maternal serologies Developmental In 6th grade, PS 59 Student Council Plays basketball Likes Irish dancing Immunization IUTD as per mom Social History Lives with mom Goes to his father every weekend Family History (+) Epilepsy – maternal great uncle (+) ANA - mom with similar movements – started at 12 y/o, worse when dancing Physical Exam VS: WNL, alert, awake, active No dysmorphic features/neurocutaneous stigmata (+) bilateral nasal congestion Neuro exam: fluent, alert, interactive CN II-XII – intact Motor – full and symmetric strength, no atrophy Cerebellar – no ataxia/dysmetria Reflexes – 2+, no clonus, no Babinski Sensation – intact Gait – normal Tone - normal Labs: CBC: 8.5\13.6 / 208 /39.1\ N 43 L 36.7 CMP: 139|103| 16 /63 4 | 27 | 0.6 \9.4 4.3 | 19 | 0.5 6.9 | 26 | 380 U/A: WNL Labs ESR – 4 ANA – negative TSH – 2.7 T4 – 6.9 Ceruloplasmin – 31 Imaging MRI - normal EEG - normal Outline I. II. III. IV. V. VI. Definition of Terms Review (motor systems) Movement Disorders Case Diagnosis Case Discussion Videos Definition of Terms 1. 2. 3. Athetosis - slow writhing motions of the arms and hands that appear to flow into one another Chorea – combination of jerky, arrhythmic, "dancelike" movements that may involve the whole body Ataxia - lack of coordination while performing voluntary movements Definition of Terms 4. Dystonia - increased muscle tone with repetitive, twisting, patterned movements and distorted posturing 5. Ballismus - uncontrollable flinging movements of an arm, a leg, or both Motor Systems Cortex Cerebellum and the basal ganglia Brainstem Spinal cord Muscles "Movement disorders are frequently misdiagnosed because there is not enough awareness of the differences in the disorders." - Dr. Albright Pediatric Movement Disorders Ataxia inability to make smooth, accurate, and coordinated movements, often due to disease of the cerebellum. Bradykinesia extreme slowness and stiffness of movement, often due to parkinsonian syndromes. Pediatric Movement Disorders Chorea and Choreoathetosis syndrome of continuous random movements that usually occur at rest and may appear to be fidgety, dancing, or writhing. Dystonia abnormal muscle contractions that lead to twisting, jerking, spasms, or stiffening at rest or during attempts at movement. Pediatric Movement Disorders Spasticity an increase in muscle stiffness, worsens w/ rapid movement and may be a/w increased reflexes and weakness, often d/t cerebral palsy. Tics repetitive, stereotyped, and sometimes complex involuntary movements or sounds that may appear similar to purposeful actions. Pediatric Movement Disorders Myoclonus a condition of very rapid and brief shocklike jerks. Psychogenic Disorders span the full range of possible symptoms, including tremor, dystonia, ataxia, bradykinesia, and chorea. Tremor Tremor is a rhythmic back-and-forth shaking at rest or with movement. Back to the Case What’s the diagnosis? Familial Paroxysmal Kinesigenic Dyskinesia Paroxysmal Dyskinesias Paroxysmal - abnormal movements are sudden and unpredictable, with a relatively rapid return to normal motor function and behavior Hyperkinesias - sudden episodes of abnormal involuntary movements Classification 1. 2. 3. 4. Paroxysmal kinesigenic dyskinesia (PKD) Paroxysmal non-kinesigenic dyskinesia (PNKD) Paroxysmal exertion-induced dyskinesia Paroxysmal hypnogenic dyskinesia Paroxysmal Kinesigenic Dyskinesia (PKD) Age of onset: typically in childhood and adolescence, but ranges from four months to 57 years Male predominance associated with infantile, but not adultonset seizures. Paroxysmal Kinesigenic Dyskinesia (PKD) unilateral or bilateral involuntary movements precipitated by other sudden movements such as standing up from a sitting position, being startled, or changes in velocity attacks include combinations of dystonia, choreoathetosis, and ballism Paroxysmal Kinesigenic Dyskinesia (PKD) Sometimes preceded by an aura No loss of consciousness. Can be as frequent as 100/day to as few as 1/month. Usually a few seconds to 5 minutes in duration but can last several hours. Genetics Autosomal dominant with incomplete penetrance Localized to chromosome 2q and chromosome 16cen PKC and episodic ataxia type 1 with mutations of the KCNA1 gene. PKC and infantile convulsions linked to chromosome 16cen near ion channel genes Genetic Counseling Risk to Family Members: Parents of a proband - > 90% of individuals w/ an affected parent Sibs of a proband depends on the status of the parents. f (+), risk is 50%. Asymptomatic carrier Risk is 50% Diagnosis based on the clinical findings of attacks of dystonia, chorea, ballismus, or athetosis triggered by sudden movements that occur many times per day and can be prevented or reduced in frequency by phenytoin or carbamezepine. Evaluation EEG MRI Treatment Phenytoin or Carbamezepine Oxcarbazepine, Ethosuximide, Lamotrigine and Gabapentin * Lower dose than usual anti-epileptic range, same side effects Paroxysmal Nonkinesigenic Dyskinesia (PNKD) nonkinesigenic - not triggered by sudden movement 1 in 5 million people Autosomal dominant Mutations in the PNKD gene (function of the protein is unknown) Paroxysmal Nonkinesigenic Dyskinesia (PNKD) NOT induced by exercise or sudden movement and do not occur during sleep develop without a known cause brought on by alcohol, caffeine, stress, fatigue, menses, or excitement Paroxysmal Nonkinesigenic Dyskinesia (PNKD) PNKD gene - similar to a protein that helps break down a chemical called methylglyoxal (found in alcoholic beverages, coffee, tea, and cola) Research has demonstrated that this chemical has a toxic effect on neurons Paroxysmal exercise-induced dystonia (PED) Rare genetic disorder Episodes of dystonia mostly affecting the feet induced by continuous exercise like walking or running. Pathophysiology is unknown Antiepileptic drugs are generally unhelpful Paroxysmal nocturnal dyskinesia May be a form of frontal lobe epilepsy May be familial with AD inheritance Occurs while asleep Mutations of the neuronal nicotinic acetylcholine receptor gene (chromosome 20q and15) clinically & genetically heterogeneous Conclusion No single set of tests is appropriate for every child. Some children require extensive testing, while others may receive a diagnosis after a single clinic visit. Consult a neurologist to avoid unnecessary, expensive, confusing tests. Consult other subspecialists as needed.