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