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NEUROMUSCULAR DISORDERS

CEREBRAL PALSY . Defn: . This is a disorder of posture

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NEUROMUSCULAR DISORDERS

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    1. NEUROMUSCULAR DISORDERS by Dr SBA Oseni

    2. CEREBRAL PALSY

    3. Defn: This is a disorder of posture & movement due to a permanent but non-progressive damage to the developing or immature brain.

    4. Etiol: - Intrauterine infections - Kernicterus - Cerebral malformations - Meningitis -   HIE - Encephalitis - ICH - Cerebral malaria Hypoglycemia other Metabolic problems

    5. Types/ Pathol: SPASTIC: ATHETOID ATAXIC MIXED

    6. Associated features: - Seizures - Microcephaly - Visual problems(squint) - Deafness - MR - Speech defect/ delay - Devtal Delay

    7. DD: - Congenital malformations - Tumors of brain/SC - Hydrocephalus - Leukodystrophy - Spinal cord lesion - Metabolic – Aminoacidopathies, organic acidurias, etc - Myotonic Muscular dystrophy

    8. Mx: Multi-disciplinary care as necessary.

    9. NEUROMUSCULAR DISORDERS   ANTERIOR HORN CELL DISEASES   SPINAL MUSCULAR ATROPHY (SMA)

    10. Defn: - genetic diseases -         varying do of muscular weakness -         relative / absolute absence of anterior horn cells of SC & brain stem -         spares the extra-ocular muscles.

    11. Types: SMA type I: Acute Infantile SMA ie Werdnig –Hoffmann dx ,, ,, II ,, ,, III

    12. Xtics: of SMA type I - AR; 5q13 7/8- . - appears mostly @ birth, or early infancy ie 1st 6mo of life - looks bright with good social interaction - extreme generalized weakness; proximal > distal; but normal sensation & facial movt - tongue weakness with fasciculations (bc Cn12) unable to clear pharyngeal contents - paradoxical breathing (b/c respir muscle paralysis) - relentless progress to death from aspiration +/- pneumonia

    13. D: Clin fx CPK (normal) EMG => fibrillation @ rest, fasciculation; ? amplitude of motor unit potentials Nerve conduction velocity is normal Muscle biopsy => grouped fibre atrophy Karyotyping => 5q13 deletion

    14. Mx: Assisted feeding via NGT or gasrostomy tube PhysioRx to prevent contractures Pulmonary toileting +/- assisted respir

    15. SMA type II: Chronic Infantile SMA Xtics: - AR; 5q13- - onset in late infancy ie 6-18 mo (infant normal b4 then) - symmetric proximal weakness with LL >UL; I/nil DTR - affects face but not extra-ocular mucles - slowly progressive, reaching a plateau ? survival to adulthood

    16. SMA type III: Juvenile onset SMA - Rare ; AR mostly (AD forms known); 5q135- (NAIP gene) - onset in late childhood or adolescence - slowly progressive with gait instability ? waddling, later , scoliosis, lumbar lordosis - calf hypertrophy & genu recovertum. May continue to walk with normal life span. -?/nil DTR - CPK = 2-4 X normal Muscle biopsy => some grouped fbre atrophy mixed with hypertrophied ones adjacent normal ones.

    17. GULLAIN-BARRE Syndrome Etiol: Influenza / Mumps / Measles / Coxsackie / Echo / Infectious mononucleosis / EBV / HIV or immune disorders eg: Rheumatoid arthritis / Lupus erythematosus / Hodgkin’s disease. acute/ subacute post-infectious, inflammatory , demyelinating polyradiculopathy. acute/ subacute post-infectious, inflammatory , demyelinating polyradiculopathy.

    18. Path = sensitization of lymphocytes to protein components of myelin sheath ? migration of the cells to & breakdown of the myelin sheath of peripheral nerves & :. ? nerve conduction.

    19. Clin fx: - Interval of few days to 2-5 wk - Pain in thighs + difficulty in getting up or climbing stairs - Symmetric lower limb weakness: proximal > distal - Loss of reflexes wt ? of plantar reflex - Associated paresthesia - Weakness ascending to eventually involve respiratory & bulbar muscles within 24-72 hr -  ANS involvement ? incontinence &/or retention, fluctuating BP, Blurred vision & cardiac arrythmias.

    20. D: Clin. Fx + LP—CSF? ? protein (75%) but normal cell counts EMG ? ? nerve conduction, ? Compound muscle action potential => axonal involvement And absent F-waves

    21. Cxn: Respir insufficiency Rx : Supportive with ETT + assisted respir IV IgG 0.4g/kg/d X 5/7 or 2g/kg/d X 2/7 Plasmapheresis or single vol EBT Complete recovery in most cases & in places with good ICU facilities. In Nigeria most die from the respir paralysis.

    22. POLIOMYELITIIS

    23. Acute viral inflextion due to poliovirus ? - Most go unnoticed in ASYMPTOMATIC POLIO - Non-specific minor illness(Abortive polio) - Aseptic meningitis (non-paralytic polio) - Flaccid weakness of various muscle sps (paralytic polio) Agent: Small (picorna), single-stranded RNA genome with no envelope. Agent: Small (picorna), single-stranded RNA genome with no envelope.

    24. Types: 1**, 2, 3 Natural Host – humans Source of spread – unapparent inflection (Asymptomatic polio) = 99% @ risk- < 5s Epidemics- Summer 1P = 1-2 weeks Incubatn period PLUS Infectivity: 1-2 weeks in throat 3-6 weeks in faeces

    25. Path: Naso/Oro-phanyngeal droplet inflextion ? GIT lymphnode ? 1st and small viral replicatn ? 1o viremia Hematogenous spread (small amounts). ? RES other sites ? Extensive viral multiplication ? 2 o viremia ? CNS invasn.

    26. Affected: -     All organs -    Significantly – motor neurons of brain and spinal cord ? 1o event of neuronal damage ± necrosis from       - intense inflammation and eventual -     Neuronophagia

    27. Factors ? severe damage: -    Recent tonsillectomy -    DPT inoculation -    Physical exertion concurrent with onsets of CNS phase -    Pregnancy.

    28. Clin forms/signs and symp Minor – Abortive > 95% infxns; mild catarrhal fever, malaise, Headache, sore throat, vomiting. Abd pain. Onset 3-5d post exposure. Recovery in 1-3 d.

    29. Major (i) - More commonly, no preceeding minor illness. OR - Ff several days of wellbeing after minor illness. 1P 7-14 d. - Fever, more severe Headache - Stiff neck and back muscles - Deep muscle pain - ± Paresthesia and Hyperesthesia - Urinary relentn. From bladder paralysis - Cessation of illness ? Recovery (non-paralytic)

    30. Major (ii) - ? DTR and Abd reflex ? Pure spinal polio Asymmatrical paralysis. ± Resp failure Bulbar ? Dysphagia, Nasal Regurgitation/ nasal voice OR ? Both

    31. ?- Suspicion, Symptoms, Viral titress (IgM) in Bld, Viral culture in throat & stool.

    32. Prognosis: 1% symptomatic cases ? paralysis < 25% paralytic ? Permanent disability 25% ,, ? mild disability > 50% ? full recovery 1-4% ? mortality.

    33. Mx: Prophylaxis: Sabin OPV live attenuated. C.I in immunocompromised Salk killed IPV.

    34. Rx: = Symptomatic – -                     Analgesic -                     Antipyretics -                     Bed rest -                     UTI ? Antibiotics -                     PhysioRx -                     Resp support.

    35. MYASTHENIA GRAVIS Defn: Types: - Neonatal MG: - Transient - Persistent - Juvenile-onset MG - Bulbar MG - Ocular MG - Myasthenia crisis

    36. FXs: Transient Nn MG: -    in 15% of babies of mothers affected by MG -   Transplacental acquisition of AARA (anti-Ach-receptor ab’) -   Weakness and hypotonia with little spontaneons activity -   Inability to suck/swallow -   May have resp. insufficiency from generalized weakness -   Lasts few days to 3-4 weeks depending on rate of antibody decay after which muscle power is regained -  Babies may require respiratory support or gavage feeding

    37. Persistent / Congenital Nn MG -   Mothers not affected by MG -   No anti-Ach-receptor ab’ detectable in circulation (:. No Immune rx) -   AR inheritance -   Eye lids and extraocular muscles more affected -   May require respiratory and nutritional support + Anticholinesterase therapy.

    38. Juvenile-Onset / Classic MG: -  Onset after 6mo of age, ľ after10yr of age -  Earliest and most constant Fx = extraocular muscle weakness ? Ptosis and Diplopia but normal papillary reaction -  Dysphagia ? feeding difficulties -  Dysarthria -  Facial weakness ?expressionless face -  Poor head control therefore weakness of neck flexors -  Proximal limb weakness -  Sensation and DTR are normal Manifestation fluctuates in intensity over hours to days.

    39. Bulbar MG: -          Alteration in voice -          Nasal regurgitation -         Choking -         Dysphagia.

    40. Ocular MG: = Generalised disease in which ONLY the extra-ocular muscles manifest weakness. (serology likely +ve for ab’)

    41. ?tic tests: -    Ask patient to sustain upward gaze for 1-2min -  In supine position, ask to raise up head and keep so -  Ask to do repetitive opening and closing of fist -  Elevate arms sideways -  Sustain chewing movements -  Tensilon test (0.1mg/kg up to 10mg Edrophonium / 0.04mg/kg Neostigmine) S/E – bradycard, card arrest S/P- have Atropine ready in syringe

    42. Investigation:- - EMG ? decremental response to repetitive nerve stimulation - Serology for anti-Ach-recep. Ab; Antinuelear ab; Immune complexes - Thyroid profile to r/o Hashimoto’s dx - ECG ?normal heart muscle - Muscle biopsy – often normal but occasionally inflammatory changes.

    43. Management: Relief of symptoms with : - Anticholinesterase (Neostigmine) - Plasmapheresis - Corticosteroid . Supportive therapy as required: - Ventilatory support - Gavage feeding

    44. General: S/P: Avoid succinylcholine or Pancuronium for surgery.   Prognosis: Unpredictable.   Myasthenic crisis = life-threatening respiratory involvement which may occur in 10% of cases. Mechanical ventilation and Tensilon (Edrophonium) administration are vital for survival.

    45. MUSCULAR DYSTROPHY Xtics: -    Primary myopathy -    Genetic basis -    All progressive in course - Degeneration and death of muscle fibres at some stage, with replacement by connective tissue.

    46. Types: Duchenne MD (Xp21-) Becker MD (Xp21-) Facioscapulohumeral (Landonzy-Dejerine) MD (4q35-) Limb-girdle MD(5, 13, 15, 17) q- Scapulo-humeral (Emery-Dreifus) MD (Xq28-) Congenital MD (6p2-) Myotonic MD Fukuyama Type

    47. DMD: Commonest and most important 1:3,000 male births X-linked recessive (Xp21-) May show gross motor skill delay in infancy Onset by 3-7year usually =4yr. Progressive proximal muscle weakness ? waddling gait, Gower sign, frequent falls, Toe-walking, difficulty standing up and climbing stairs.

    48. Limb flexion contractures lordossis and scoliosis Calf muscle pseudohypertrophy Cardiomyopathy (90%) Intellectual impairment (33%) Chair-ridden by 2nd decade Psychological depression Death by age 20yr.

    49. Becker MD:         Variant of Duchenne MD with same gene mutation but milder course as patient remain ambulant to 4th /5th decades of life.  

    50. Facioscapulohumeral (Landonzy-Dejerine) MD   -                     AD genetics 4q35- -                     Weakness mainly in facial, shoulder and upper arm muscles ?winging of scapular -                     Onset 7-20yr ie 2nd decade -                     Difficulty whistling, eye closure, and arm elevation -                     Some patients develop distal ie anterior tibial and peroneal muscle weakness ? foot drop

    51. Facioscapulohumeral MD -  Ambulation often preserved -  Life expectancy is normal -  There may be hearing loss and retinal vasculopathy. -  CPK normal or ?se -  EMG ? both myopathic + neuropathic potentials

    52. Limb-girdle MD: - Spares the face but affects hip and shoulder with eventual distal muscle wasting -± Calf muscle hypertrophy and ankle contractures -Genetic variants include 5q-, 13q-, 15q- & 17q- -           Some AR, others AD (5q-) -Normal IQ. -Biopsy ? myopathy with defect in adhaline part of dystrophin-glycoprotein complex

    53. Scapulo-humeral (Emery-Dreifus) MD: -   Genetics Xq28- -  Onset in middle childhood with slow but progressive course -  No muscle hypertrophy -  Elbow and ankle contractures develop early -  Scapulo-humero-peroneal distribution of weakness -  Severe cardiomyopathy = cause of death -  Normal IQ.

    54. Congenital MD: -  Present @ birth or early infancy -  Abn merosine & linking protein in skeletal muscle -  AD; AR; 6p2- -  MRI ? ??? T-2 signals in white matter, ?sing over time -  Biopsy ? dystrophic process + degeneration & replacement by fat & collagen.

    55. Fukuyama Type C& D MD: MD + Cerebral dysplasia Defect in 9p31-33 Proximal or distal weakness Contractures early (± @ birth) Microcephaly with Severe MR Biopsy ? muscle degeneration with fat & collagen replacement Brain ? polymicrogyria, heterotopias & lissencephaly

    56. Diagnosis of MDs: NB: - Age of onset, family ++e, characteristic ----- distribution of weakness and wasting of muscles - and Gower sign - Lab: - Serum CK: 50-100 X ? - Nerve conduction velocity normal - EMG ? low amplitude, rapidly recruiting motor unit potentials - Muscle biopsy ? necrosis - DNA analysis - CXR and ECG esp in DMD and Emery-Dreifuss MD.

    57. Management: No specific treatment but palliative measures. - Rx of CCF &/or Pulmonary infection - Good nutrition - Passive exercises rather than vigorous physiotherapy which hastens progression - Genetic counseling - Molecular engineering (gene therapy) not yet available

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