The document discusses various neuromuscular disorders, focusing on specific conditions such as spinal muscular atrophy, Guillain-Barré syndrome, myasthenia gravis, and Duchenne muscular dystrophy. It provides patient histories, clinical pictures, diagnostic workups, and management strategies for each condition. The information highlights the complexities of these disorders, including their symptoms, progression, and treatment options.

1. NEUROMUSCULAR
DISORDERS
P R E PA R E D A N D P R E S E N T E D B Y
• IBRAHIM H. TAWHARI.
• MOHAMMED I. ALHEFZI.
• ABDULLAH H. AL-ASMRI.
• YAHYA M. ABUTALIB.
S

4. S ID / CC:
SCENARIO - HISTORY
S A 4-months-old infant.
S Presenting with weak arms & limbs.
S HPI:
S A 4-months infant has been brought by his
mother.
S The mother states that she noted a
generalized weakness of her baby.
S She states that her baby has is unable to lift
his head off the pillow.
S When picked up, his head falls back as his
neck is weak.
S He feeds from a bottle and takes a long time.
His sucking is weak and slow.

5. S HPI CONTD.:
SCENARIO - HISTORY
S He has weakness in his limbs.
S On further questioning, the mother states that
he was always alert with good eye contact.
S He began smiling by 6 weeks of age
recognized his parents.
S He turns her head and eyes toward sounds
and begun to coo a little.
S DEVELOPMENTAL HX.:
S As above.
S PAST HX.:
S As above.
S He got chest infection last month.

6. SCENARIO - HISTORY
S DRUG HX.:
S NAD.
S FAMILY HX.:
S He is the the 2nd child.
S He has only one older sister and she is
healthy.
S PREGNANCY HX.:
S The mother was healthy during pregnancy
and had no complications.
S She was not using any drugs and didn’t
expose to radiation.
S This was her 2nd pregnancy and she noted
that fetal movement was less than her first
pregnancy.

7. SCENARIO - HISTORY
S NEONATAL HX.:
S GA: full term.
S Birth weight: 2.7 Kg.
S Weak crying.
S No admission.
S IMMUNIZATION HX.:
S He received all vaccines up to date as
scheduled.

8. S GENERAL & VITAL SIGNS:
S No facial dysmorfic.
S Afebrile.
SCENARIO - PE
S Tachycardia & tachypnea.
S Subcostal retraction.
S Lung: Clear.
S Abdomen: normal.
S CNS:
S Mental status:
S Alert, smiles and interacts with mother.
S CRANIAL NERVES:
S Normal.

9. S MOTOR:
S Wasting and decreased muscle tone in axial
and limb muscles.
SCENARIO - PE
S Head lag when pulled from supine to prone
position.
S When supine, frog-leg position.
S Tongue fasciculation.

10. S LAB WORK;
SCENARIO – LAB INV.
S CBC:
S Normal.
S ELECTROLYTES:
S Normal.
S CPK:
S 250 IU/mL. “mild elevation”.
S MUSCLE BX;
S Confirmed.
S Spinal Muscular Atrophy.
S “Werding Hoffmann’s Disease”.

13. NEUROMUSCULAR
DISORDERS
Definition
S

14. DEFINITION
S Defines as disorders of the motor unit.
S excludes influences of muscle functions from the brain such
as spasticity.

17. NEUROMUSCULAR
DISORDERS
Classification
S

18. CLASSIFICATION
S Motor unit has four Components:

19. CLASSIFICATION
DISORDERS OF PERIPHERAL NERVES MUSCLE DISORDERS
DISORDERS OF ANTERIOR HORN DISORDERS OF NEUROMUSCULAR
CELLS JUNCTION

20. CLASSIFICATION
GUILLIAN-BARRE’ SYNDROME DUCHEN MUSCULAR ATROPHY
DISORDERS OF PERIPHERAL NERVES MUSCLE DISORDERS
CHARCOT-MRIE-TOOTH
DISORDERS OF ANTERIOR HORN DISORDERS OF NEUROMUSCULAR
MYASTHENIA GRAVIS
SPINAL MUSCULAR ATROPHY
CELLS JUNCTION

23. SPINAL MUSCULAR
ATROPHY
Ant. Horn Cells Disorders
S

24. SPINAL MUSCULAR ATROPHY
S Degenerative disease of the anterior horn
cells of the spinal cord & Cranial Nerve
Nuclei in the brainstem.
S Wasting & Weakness.

25. SPINAL MUSCULAR ATROPHY
S Autosomal Recessive
(chromosome 5q11.2-13.3).
S Progressive.
S Incidence:- 1:10,000 of live birth.

26. SMA
• Autosomal Recessive

27. SPINAL MUSCULAR ATROPHY
S CLINICAL PICTURE;
S Generalized weakness.
S Severe hypotonia.
S Proximal & distal muscles of limbs.
S Intercostal muscles..., & Chest deformity…
S Bulbar muscles.
S Absent deep tondon reflexes
S Hx. of fetal movement in utero.
S Breathing difficulty  Paradoxical
Respiration.
S Feeding difficulty.
S Floppy infant.
S Frequent severe respiratory tract infections.
S IQ??
S Normal.

28. • Lack of head support.
• Hypotonia.
• Frog leg posture.
• Tongue Fasciculation.

29. TYPES

30. S CK
S Normal or Mildly increased.
S NERVE CONDUCTION
INVESTIGATIONS
S Normal intelligence.
S EMG
S Evidence of denervation (Fibrillated
Potential).
S MUSCLE BX
S GENETIC DETECTION

31. S SUPPORTIVE CARE
S As no treatment can stop or delay the
progression.
MANAGEMENT
Power Wheelchair. Mechanical Ventilation.
S NEW MODALITIES?
S Stem Cells?!

32. PART II
Mohammed I. Alhefzi
S

35. GUILLIAN-BARRÈ
SYNDROME
Peripheral Nerves Disorders
S

36. GUILLIAN-BARRÈ SYNDROME
S Inflammatory disorder of the peripheral nerves
S Weakness and tingling.
S > +1 limb.
S Symmetric.
S Legs > Trunk > Arms > Neck > Face.
S Progressive.
S Severe (medical emergency requiring
hospitalization)
S Preceded by infections.
S URTI
S GI
S 1 - 3 wks.
S Incidence: 1-2 per 100,000.
S Males > Females (1.5:1).

37. GUILLIAN-BARRÈ SYNDROME
S CAUSES;
S Unknown.
S AI destruction of myelin and/or axons.
S Precedes by Infections.
S Affects signals;
S Weakness.
S Numbness.
S Paralysis.

38. GUILLIAN-BARRÈ SYNDROME
S WHO IS AT RISK?
S Young/Older Adults.
S Triggers;
S Campylobacter infection. "esp. poultry"
S Mycoplasma pneumonia.
S Surgery.
S Epstein-Barr virus.
S Influenza virus.
S Hodgkin's disease.
S Mononucleosis.
S HIV.

39. GUILLIAN-BARRÈ SYNDROME
S CLINICAL PICTURE;
S MOST SIGNIFICANTLY WITHIN 4 WEEKS.
S Muscle weakness. (Ascending).
S Aching pain.
S Shoulders, thighs, lumbar region.
S Dysphagia, Dysarthria, Facial
weakness, Ophthalmoplegia.
S MINIMAL loss of sensation (on exam).
S Decreased or absent tendon reflexes.

40. S COMPLICATIONS;
GUILLIAN-BARRÈ SYNDROME
S Breathing.
S CVS.
S Pain.
S Bowel/Bladder Dysfunctions.
S Blood clots.
S Pressure sores.
S Relapse.
S "10%"
S Death.
S (RDS, Heart Block). [Rare]

41. GUILLIAN-BARRÈ SYNDROME
S INVESTIGATIONS;
S CSF (LP).
S Elevated Protein, normal cell count. (1wk)
S EMG.
S Demyelination? Axonal?
S Nerve Bx. (If other fails).
S Sural Nerve.
S ECG.
S Arrhythmias?
S Other Investigations according to the cause.

42. GUILLIAN-BARRÈ SYNDROME
S MANAGEMENT;
S I.V. Ig.
S Plasmapheresis.
S Paralyzed Patients.
S Anticoagulants. (Prevent TE).
S Electively;
S ET Intubation.
S Tracehostomy.
S Mechanical Ventilation.
S Nutritional Support.

43. Charcot-Marie-Tooth
Hereditary Motor & Sensory Neuropathy (HMSN I)
S

44. S AD.
CHARCOT-MARIE-TOOTH
S Both genders affected equally.
S CMTX affects males.
S Prevalence: at least 1 in 2.500.
S Age of onset varies (first 2 decades of life).
S Caused by gene mutations.
S Inherited (Familial).
S Less commonly De Novo (Sporadic).

45. S CLINICAL PICTURE;
CHARCOT-MARIE-TOOTH
S Weakness; legs, ankles and feet.
S Loss of muscle bulk.
S Hand weakness.
S Difficulty in running.
S Foot deformity (Pes Cavus).
S Hammertoes.
S Diminished or absent deep tendon reflexes.
S Steppage gait.
S Usually (+ve) Romberg's Test.
S Generally NO PAIN.

46. CHARCOT-MARIE-TOOTH

47. S INVESTIGATIONS;
CHARCOT-MARIE-TOOTH
S EMG.
S Genetic Testing.
S Nerve Bx.

48. S MANAGEMENT;
CHARCOT-MARIE-TOOTH
S No Cure. (Supportive).
S Medications.
S (If Pain) from muscle cramps.
S Therapy;
S Physical therapy.
S Occupational therapy.
S Orthopedic devices. (leg/ankle braces)
S Surgery
S Severe cases.
S Not weakness/loss of sensations

49. PART III
Abdullah H. Al-Asmri
S

52. MYASTHENIA GRAVIS
S

53. MYASTHENIA GRAVIS
S An autoimmune of neuromuscular junction.
S Weakness of skeletal muscles.
S Fatigability on exertion.

54. S PATHOPHYSIOLOGY;
MYASTHENIA GRAVIS

55. NEONATAL MYASTHENIA
S Neonatal Myasthenia Gravis
GRAVIS

56. NEONATAL MYASTHENIA
GRAVIS

57. NEONATAL MYASTHENIA
GRAVIS

58. MYASTHENIA GRAVIS
S Myasthenia Gravis is often associated with:
S Hashimoto thyroiditis.
S Some collagen vascular diseases.
S Thymoma (mostly with adults; rarely in
children).
S Post-infectious myasthenia:
S Affects children.
S Follows infection with varicella zoster.
S Transient.

59. S CLINICAL PICTURE;
MYASTHENIA GRAVIS
CLINICAL PICTURE
S Ptosis and extra ocular muscle weakness:
S The earliest & most consistent finding.
S Dysphagia.
S Facial weakness.
S Feeding difficulties.
S Poor head control.
S Weakness of limb girdle.
S Weakness of hands & feet muscles.
S Rapid muscle fatigue (profound late in day & when
tired)
S Fasciculation and sensory symptoms DO NOT
occur.
S Tendon reflexes may be diminished.

60. S DIAGNOSTIC STUDIES;
S EMG.
MYASTHENIA GRAVIS
S More diagnostic than Bx.
DIAGNOSIS
Normal. MG.
S Anti-Ach Abs.
S Tensilon test (Edrophonium Test)
S Ptosis and ophthalmoplegia improve within a few
seconds, and fatigability of other muscles decreases.

61. S TREATMENT;
MYASTHENIA GRAVIS
S NO TREATMENT.
S For Mild and transient MG.
TREATMENT
S Cholinesterase inhibitors.
S Neostigmine.
S Physostigmine
S Steroids.
S I.V. Ig
S Plasmapheresis

62. S Thymectomy.
MYASTHENIA GRAVIS
S If high Ab titer.
S Duration of symptoms < 2 years.
TREATMENT
S Neonates with transient maternally transmitted
MG require cholinesterase inhibitors for only a
few days or occasionally for a few
weeks, especially to allow feeding.

63. S AVOID:
MYASTHENIA GRAVIS
S Neuromuscular blocking agents.
CAUTIONS
S Aminoglycosides.

64. PART IV
Yahya M. AbuTalib
S

67. DUCHENN MUSCULAR
DYSTROPHY
“Pseudohypertrophic Muscle Dystrophy”
S

68. S An X-linked recessive (locus Xp2.1).
DUCHENN MUSCULAR
DYSTROPHY
S Results from deficiency of dystrophin
protein.
S Onset: 3-5 years of age.
S Incidence:- 1:3600 male.
S Males > Females.

69. DUCHENN MUSCULAR DYSTROPHY

70. Dystrophin
Protein
• It anchors the contractile
muscle filaments to the
surrounding membrane of
muscle cells.

71. When dystrophin is defective,
two things happen:
1. Muscles cannot contract
normally, which leads to
weakness.
2. As a muscle cell contracts, its
delicate membrane tears,
spilling the contents of the
cell (e.g., CK, myoglobin) into
the surrounding fluid.
• Dead muscle cells are
replaced by fat tissue &
fibrous scars
• → Pseudohyphertrophy

72. DUCHENN MUSCULAR
DYSTROPHY
• Affects axial and
proximal muscles more
than distal muscles.
• Affects skeletal, smooth
and cardiac muscles, and
brain.

73. S CLINICAL PICTURE;
DUCHENN MUSCULAR DYSTROPHY
S Hypotonia.
CLINICAL PICTURE
S Fatigability.
S Difficulty in standing & walking.
S Psedohypertrophy of calf & deltoid.
S Toe walking.
S Deformity of spine.
S Cardiomyopathy.
S Low IQ.

74. DUCHENN MUSCULAR DYSTROPHY
CLINICAL PICTURE
Gower’s Sign
Calf Muscle Swelling
Waddling Gait

75. DUCHENN MUSCULAR DYSTROPHY
S PROGRESSIVE COURSE;
S Gower sign: 3years.
S Arm weakness: 6years.
CLINICAL PICTURE
S Wheelchair: 12 years.
S Poor cough & respiratory difficulty: 16 years.
S Death is mainly due to respiratory failure.

76. DUCHENN MUSCULAR DYSTROPHY
S CK;
S Greatly ↑↑↑
INVESTIGATIONS
S MUSCLE BX;
S Necrosis, fat cells & fibrous tissue.
S CT BRAIN;
S Brain atrophy.

77. DUCHENN MUSCULAR DYSTROPHY
MANAGEMENT
S SUPPORTIVE.
S No Cure.

78. BECKER MUSCULAR
DYSTROPHY
S

79. S SIMILAR TO DUCHENN MUSCULAR DYSTROPY.
BECKER MUSCULAR
S X-LINKED RECESSIVE.
DYSTROPHY
S SOME DYSTROPHIN IS PRESENT BUT IS ABNORMAL.
S MILDER.
S SLOWLY PROGRESSIVE.
S CALLED: BENIGN PSEUDOHYPERTROPHY.

80. COMPARISON
------------------------- DUCHENN BECKER
ONSET 3 - 5 years 5 - 15 yeas
LIFE EXPECTANCY Teens 30s – 50s
MENTAL RETARDATION Common Uncommon
DYSTROPHIN Markedly ↓↓↓↓ May be normal; but the
or even ABSENT protein itself is abnormal.

81. PRESENTED AS FULFILLMENT OF PEDIA II COURSE.
WISH YOU ALL THE BEST; FROM: I. TAWHARI, M. ALHEFZI, A. AL-ASMRI, Y. ABUTALIB