In this slideshow, we covered most of neuromuscular disorders which might face you in medicine in general and in pediatrics in particular.
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Neuro Muscular Disorders
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
2.
3.
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 didnât
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 â LAB INV.
S CBC:
S Normal.
S ELECTROLYTES:
S Normal.
S CPK:
S 250 IU/mL. âmild elevationâ.
S MUSCLE BX;
S Confirmed.
S Spinal Muscular Atrophy.
S âWerding Hoffmannâs Diseaseâ.
24. SPINAL MUSCULAR ATROPHY
S Degenerative disease of the anterior horn
cells of the spinal cord & Cranial Nerve
Nuclei in the brainstem.
S ďŽWasting & Weakness.
25. SPINAL MUSCULAR ATROPHY
S Autosomal Recessive
(chromosome 5q11.2-13.3).
S Progressive.
S Incidence:- 1:10,000 of live birth.
27. SPINAL MUSCULAR ATROPHY
S CLINICAL PICTURE;
S Generalized weakness.
S Severe hypotonia.
S Proximal & distal muscles of limbs.
S Intercostal muscles..., & Chest deformityâŚ
S Bulbar muscles.
S Absent deep tondon reflexes
S Hx. of ďŻfetal movement in utero.
S Breathing difficulty ď¨ 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.
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?!
36. GUILLIAN-BARRĂ 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-BARRĂ 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-BARRĂ 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-BARRĂ 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-BARRĂ 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-BARRĂ 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-BARRĂ 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.
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.
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
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.
67. DUCHENN MUSCULAR
DYSTROPHY
âPseudohypertrophic Muscle Dystrophyâ
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.
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
⢠â 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.
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 âââ
INVESTIGATIONS
S MUSCLE BX;
S Necrosis, fat cells & fibrous tissue.
S CT BRAIN;
S Brain atrophy.
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 â 50s
MENTAL RETARDATION Common Uncommon
DYSTROPHIN Markedly ââââ 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