Neuromuscular Disorders

1. Neuromuscular Disorders Budak Akman, M.D Yeditepe University Hospital Department of Orthopaedics and Traumatology Istanbul

2. Neuromuscular disorders • To operate correctly, muscles must be stimulated byelectrical signals originated from brain and received from nerves • Two major types of disorder are seen: • 1) “Neuro” related: • Problems with signal transmission in the nerves • Problems getting the signal transferred from thenerve “across” to the muscle fibers (muscle cells) • 2) Muscle related: • Problems within the muscle itself

3. Neuromuscular disorders • Cerebral palsy • Spina bifida • Poliomyelitis • Friedrich’s Ataxia • Spinal muscular atrophy • Muscular dystrophy

4. Spina bifida • Congenital disorder • Lack of Folate • Failure of posterior vertebral arch fusion • 4-14/10.000 live births • Usually in lomber spine • If neural elements involve, paralysis, loss of sensation and loss of sphincter control can happen

5. Spina bifida • Spina bifida occulta • Mildest form • Only defect in laminae • May be defects on skin such as dimple, pit or hair • Most of them undiagnosed, few may have tethered cord, diastometamyelia, medullar lipomas

6. Spina bifida • Spina bifida apperta • Meningocele • The spinal cord and nerve roots remain in their normal position and duramater is open posteriorly and sac protrudes under skin • Most of them have no neurological abnormality, but hydrocephalus, infection and ulceration of the cycst are common 110

7. Spina bifida • Spina bifida apperta • Myelomeningocele The spinal cord and nerve roots prolapse together with the meningeal sac Hydrocephalus, paralysis under affected zone, multiple deformities (hip dislocation, genu recurvatum, PEV, claw toes), CSF leakage are very common

8. Poliomyelitis • Viral infection of the anterior horn cells of the spinal cord and brain stem • Asymetric flaccid paralysis of the affected muscle groups • Very rare after vaccination programs

9. Poliomyelitis • Flue like symptoms • Pain and spasms for 2-3 days • Paralysis settled with in 6 months • Unbalanced,asymetric flaccid paralysis often with intact sensation 107

10. Poliomyelitis • Isolated muscle weakness without deformity: especially quadriceps muscle • Deformity • Flail Joint • Shortening

11. Friedrich’s Ataxia • OR • Degeneration of the spinocerebellar and corticospinal tracts, posterior coloumn of the cord and part of cerebellum • Present 5-6 years old • Pes cavovarus, scoliosis, cardiac failure

12. Spinal Muscular Atrophy • Heritable disorder • Widespread degeneration of anterior horn cells lading to progressive LMN weakness • Werding-Hoffmann disease most common type • Muscle weakness, paralytic scoliosis, hard to feed, difficult to breath • Death happens often 2 years of age

13. Muscular dystrophy • Duchenne muscular dystrophy • Fails to produce dystrophin • Becker muscular dystrophy • Dystrophin production normal, end organ rezistance

14. Muscular dystrophy • Most of the patients diagnosed when they start to walk • Difficulty in standing and walking/running • The muscles look bulky: pseudohypertrophia

15. Muscular dystrophy • A characteristic method for climbing up his legs: Gower’s sign • By 10 years of age child cant walk again • By 20 years of age death comes by cardiac or respiratory failure

16. Cerebral Palsy and the algorithm of Orthopaedic Management

17. Definition of Cerebral Palsy • William John Little, 1830 “Brain injury due to oxygen deprivation to the brain at birth” • Sir William Osler, 1889 “The Cerebral Palsies of Children”

18. Definition of Cerebral Palsy • Cerebral palsy is a term used to describe chronic movement or posture disorders • Cerebralrefers to the brain • Palsy refers to a physical disorder

19. Definition of Cerebral Palsy • Static encephalopathy • Non-progressive central nervous system disorder • Progressive musculoskeletal system pathology • Impairment of control of movement and posture

20. Causes of Cerebral Palsy • Prenatal – 26.6% • Perinatal – 18.5% • Postnatal – 5.9% • Unclassifiable – 49%

21. Prevalence of Cerebral Palsy • 1 – 4 per 1000 live births • In Turkey, 4.4 per 1000 live births

22. In Cerebral Palsy… • Impossible to correct the brain damage • Orthopaedic and biomechanical problems develope secondary to this disorder • Some problems will continue lifelong

23. Types of Cerebral Palsy • Spasticity • Athetosis • Ataxia • Hypotonia • Mixed

24. Types of Cerebral Palsy • Spasticity • Athetosis • Ataxia • Hypotonia • Mixed

25. Topographical distribution • Monoplegia • Hemiplegia • Diplegia • Triplegia • Quadriplegia • Double hemiplegia

26. Associated problems • Seizures • Visual impairments • Intellectual impairment • Learning disabilities • Hearing problems • Communication problems and dysarthria • Oromotor dysfunction • Gastrointestinal problems and nutrition • Teeth problems • Respiratory dysfunction • Bladder and bowel problems • Social and emotional disturbances

27. Cerebral palsy without treatment

28. The goals of treatment • Improvement of life quality • Motion without assistance and pain • Sitting and individual care • Functional development, independent walking and working

29. The goals of treatment • To correct posture and walking • Balanced and stable spine and pelvis • Extension ability for hip and knee joints in stance phase • Plantigrade feet

30. Orthopaedic management for… Spasticity Contracture Bone and joint deformities

31. Gross Motor Function ClassificationSystem (GMFCS) • Level I

32. Gross Motor Function ClassificationSystem (GMFCS) • Level II

33. Gross Motor Function ClassificationSystem (GMFCS) • Level III

34. Gross Motor Function ClassificationSystem (GMFCS) • Level IV

35. Gross Motor Function ClassificationSystem (GMFCS) • Level V

36. Orthopaedic management in ambulatory child • To preserve or improve function • Facilitating movement • Maintaining a functional posture • Preventing deformity • Preventing and relieving discomfort • Observation • Orthotics • Medical management • Surgery

37. Orthopaedic management in non-ambulatory child • Total body involvement • Specific functional areas of concern • Posture for feeding • Respiratory hygiene • Bowel function • Sitting • Communication • Specific anatomical areas of concern • Upper and lower extremities • Hip and spine

38. Clinical Decision-Making Clinical history Quantitative gait analysis Physical examination Examination under anesthesia Diagnostic imaging Davids RJ et al. Optimization of walking ability of children with cerebral palsy. J Bone Joint Surg (Am) 2003; 85(11): 2224 – 2234.

39. Treatment principles in Cerebral Palsy Non-operative treatment Operative treatment Physical therapy Primary treatment Occupational therapy Secondary treatment Orthotics Serial casting Oral medication

40. Treatment principles in Cerebral Palsy • Primary treatment – Neurological Oral medication Selective dorsal rhizotomy Baclofen pump Botulinum toxin treatment • Secondary treatment – Orthopaedic Correction of the biomechanics Correction of the anatomy

41. BOTULINUM TOXIN

42. Botulinum Toxin

43. Botulinum Toxin • Clostridium botulinum • Botulism (sausage intoxication) • 7 serotype (A, B, C, D, E, F, G)

44. The mechanism of effect • Inhibits acetylcholine release at the neuromuscular junction

45. The goals of Botulinum Toxin treatment Weaken the group of spastic muscles Control of spasticity Prevent the development of static deformity (contracture)

46. The goals of Botulinum Toxin treatment Weaken the spactic (agonistic) muscle Strengthening antagonistic muscle BALANCE OF MUSCLE FORCES

47. The goals of Botulinum Toxin treatment (oriented to the joints) • Prevent development of deformities • Increase active and pasive joint range of motions • Facilitate physical therapy • Reduction of the number and complexity of future surgery; delay surgery until the optimal timing is achieved • Increase the complience to orthotics • Reduction of pain due to spasticity • Low energy consumption during gait

48. Appropriate patient • Dynamic deformity • Pain due to spasticity • Pain after surgery or cast applications • Deformity secondary to muscle imbalance

49. Inappropriate patient • Presence of contracture or static deformity • Allergy and hypersensitivity • Severe muscle weakness • Resistant patients to the previous injections • Patients used aminoglycoside, curare, calcium channel blockers

50. Guide for dose in children • Above 2 years old (between 10-30 kg) • Total maximum dose – 29 U/kg • Large muscle groups – 3-6 U/kg (maximum dose per muscle 100 U) • Small muscle groups – 1-2 U/kg (maximum dose per muscle 50 U) • Maximum dose/injection site – 50 U • Repeat of injection ≥ 3 months Graham HK et al., Gait Posture 2000; 11:67-79.