Neuromuscular disorders in children
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- Abner Hines
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1 Programma Spierziekten bij Kinderen Nieuwe inzichten Algemene inleiding- Klinische symptomen Respiratoire aspecten Orthopedische aspecten- beleid Cardiale aspecten Nieuwe therapeutische strategieën N.Goemans M.Proesmans P.Moens B.Cools N.Goemans Spierziekten bij kinderen Algemene inleiding- Klinische symptomen Neuromuscular disorders in children Presenting symptoms: o Weakness Congenital, with feeding and respiratory difficulties, contractures,(foetal akinesia) Motor delay, motor regression Abnormalities in motor functions: getting from the floor, sitting, standing, walking, running taking stairs, sports. Neuromuscular disorders in children Presenting symptoms: o Weakness o Congenital or acquired orthopaedic problems: torticollis, hipluxation, scoliosis, muscle retractions, feet deformities, o Fatigability, cramps, muscle pain, 1
2 History Age / Onset Previous history, Evolution, Progression Family history Clinical examination Muscle weakness Hypotonia Atrophy / hypertrophy of muscle bulk Tendon reflexes, fasciculations, myotonia Associated orthopedic, respiratory, cardiac symptoms Observation of muscle strength Supine : frog-like postion Sitting: kyfosis, scoliosis Observation of muscle strength Standing: broad based, hyperlordosis, Gait (waddling, tiptooing, ability to stand on heels) Getting from the floor (Gowers maneuver) Facial weakness: mimic,eye closure, eye movements, chewing, swallowing,.. Proximal 2
3 FSHD Distal Muscle bulk Atrophy : distribution: o Distal ( Charcot, other neuropathies, Steinert..) o Typical distribution in muscular dystrophies Duchenne Facioscapulohumeral Steinert Pseudohypertophy o Duchenne,Becker, Myotonia congenita,.. Congenitale myopathy Congenital Muscular Dystrophy Neurological signs Tendon reflexes: o Weak or absent in neurogenic conditions o Often weak secundary to muscle atrophy in muscle disorders Fasciculations: anterior horn cell involvement Myotonia: incapacity of relaxation following muscle contraction ( Steinert, ionchannel disorders) 3
4 The obvious ones. I. Age : 3 Presenting symptom: Clinical examination - Slowly progressive gait abnormalities: waddling gait, tipwalking, frequent falls - Difficulties raising from the floor Spinal Muscular Atrophy ( SMA) Very High Creatine Kinase ( CK) : U/l ( < 200) Toddler ( boy) Progressive gait disturbances Frequent falls Difficulties with stairs X linked inheritance ( 1/3 : new mutation) Autosomal recessive disease Progressive deterioration of anterior horn cells Broad clinical spectrum o SMA1: Werdnig-Hofman Muscle hypertophy Gowers + Tight TA Very High CK o o SMA2: Intermediate SMA3: Kugelberg Welander = DUCHENNE MUSCULAR DYSTROPHY Confirmation: Absence of dystrophin on muscle biopsy - Deletion in DMD gene Sma 1 Sma 2 Sma 3 4
5 Previous history uneventful Arrest/ regression in motor development Axial and proximal weakness Areflexia, fasciculations Normal face Normal or mildly elevated CK EMG : anterior horn cell Spinal Muscular Atrophy Confirmation: DNA : homozygeous deletion in SMN gene ( Chr 5) III. Age : 5 Presenting symptoms: o Motor delay o Global delay ( speech) Previous history: o Neonatal feeding difficulties o Clubfeet Family history: o Uneventful o in fact: dominant inheritance with anticipation Steinert disease: muscular symptoms Typical distribution of weakness Striking involvement of distal muscles Typical physionomy facial diplegia Speech disturbances ( articulation, nasal speech, swallowing difficulties) Steinert disease: multisystemic disorder Oftalmological problems (cataract) Gastro intestinal : motility disturbances Cardiac problems (conduction ) Endocrine en gynaecological problems Respiratory problems Central nervous system (hypersomnia, slowness,) Steinert disease ( MD) : spectrum Anticipation Late, with minimal expression Classical, adult onset with multi-system problems Juvenile Severe congenital 5
6 Steinert: spotdiagnosis Look at mother: Long face? Eye closure? Myotonic reactions? Family history of cataract, baldness, muscle cramps or weakness Metroraghia, postpartum hemorraghe Hypersomnia Congenital Myopathies Heterogenous group of inherited disorders of muscle structure/membrane. Initially named after histopathologic characteristics. Improved genetic diagnosis have highligted overlap Nemaline myopathy Central core, mini-core myopathy Centronucleair myopathy Congenitale myopathies : clinical symptoms Neonatal weakness +/- respiratory and feeding difficulties Congenital orthopedic features: hipluxation, clubfeet, scoliosis,.. Poor mimic, high arched palatum, Delayed motor deveolpment, secundary orthopaedic features ( contractures, scoliosis), restictive respiratory sydrome Congenitale myopathie MmC IV. Age : 6 Presenting symptom : gait difficulties Clinical examination: o Distal weakness, distal atrophy o Difficulties walking on heels, standing on one feet, hopping, o Areflexia TA, weak kneereflexes o Tight TA Family history : dominant inheritance with variable penetrance EMG : reduced motor conduction velocity : suggestive for demyelinating neuropathy Charcot Marie Tooth ( CMT) DEMYELINATING ( Type I) o Dominant ( CMT1A = most common) o Recessive o X linked AXONAL ( Type II) 6
7 Charcot Marie Tooth NM disorders : multisystemic disorders Multidisciplinary approach Classical presentation in adults: distal atrophy, dropfeet, pes cavus In children: gait disturbances, pedes plani valgi, often proximal weakness Cave late-onset hipluxation and scoliosis! Endocrinology Respiratory Orthopaedic Neurology Ophtalmology Cardiac Gastro intestinal Physiotherapy Psychologist Social worker education Occupational thearpy Speech therapist dieteticians Dental care orthotics NMRC for Children UZ Leuven NMRC s Marleen vanden Hauwe Maria Cloostermans Cindy Kunnen Eva Es Annelies van Impe Sam Geuens Marianne Diels Kim Rowan Carine Wierinckx G. Buyse Liesbeth Dewaele Pierre Moens Chris De Boeck Marijke Proesmans Benedicte Eyskens Bjorn Cools Ilse Hoffman UZ Leuven UZ Gent UCL St Luc VUBrussel Citadelle Liège UZAntwerpen Annelies vanden Eynden Corinne Antonis Anne Maes 7
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