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Neuro Muscular Disorders
 

Neuro Muscular Disorders

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In this slideshow, we covered most of neuromuscular disorders which might face you in medicine in general and in pediatrics in particular....

In this slideshow, we covered most of neuromuscular disorders which might face you in medicine in general and in pediatrics in particular.
We hope if you find this slideshow helpful for your seeking of this subject.

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    Neuro Muscular Disorders Neuro Muscular Disorders Presentation Transcript

    • 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
    • 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.
    • 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.
    • SCENARIO - HISTORYS 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.
    • SCENARIO - HISTORYS 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.
    • 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.
    • 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.
    • 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”.
    • NEUROMUSCULAR DISORDERS Definition S
    • DEFINITIONS Defines as disorders of the motor unit.S excludes influences of muscle functions from the brain such as spasticity.
    • NEUROMUSCULAR DISORDERS Classification S
    • CLASSIFICATIONS Motor unit has four Components:
    • CLASSIFICATIONDISORDERS OF PERIPHERAL NERVES MUSCLE DISORDERS DISORDERS OF ANTERIOR HORN DISORDERS OF NEUROMUSCULAR CELLS JUNCTION
    • CLASSIFICATION GUILLIAN-BARRE’ SYNDROME DUCHEN MUSCULAR ATROPHYDISORDERS OF PERIPHERAL NERVES MUSCLE DISORDERS CHARCOT-MRIE-TOOTH DISORDERS OF ANTERIOR HORN DISORDERS OF NEUROMUSCULAR MYASTHENIA GRAVIS SPINAL MUSCULAR ATROPHY CELLS JUNCTION
    • SPINAL MUSCULAR ATROPHY Ant. Horn Cells Disorders S
    • SPINAL MUSCULAR ATROPHYS Degenerative disease of the anterior horn cells of the spinal cord & Cranial Nerve Nuclei in the brainstem. S Wasting & Weakness.
    • SPINAL MUSCULAR ATROPHYS Autosomal Recessive (chromosome 5q11.2-13.3).S Progressive.S Incidence:- 1:10,000 of live birth.
    • SMA• Autosomal Recessive
    • SPINAL MUSCULAR ATROPHYS 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.
    • • Lack of head support.• Hypotonia.• Frog leg posture.• Tongue Fasciculation.
    • TYPES
    • S CK S Normal or Mildly increased.S NERVE CONDUCTION INVESTIGATIONS S Normal intelligence.S EMG S Evidence of denervation (Fibrillated Potential).S MUSCLE BXS GENETIC DETECTION
    • S SUPPORTIVE CARE S As no treatment can stop or delay the progression. MANAGEMENT Power Wheelchair. Mechanical Ventilation.S NEW MODALITIES? S Stem Cells?!
    • PART IIMohammed I. Alhefzi S
    • GUILLIAN-BARRÈ SYNDROME Peripheral Nerves Disorders S
    • GUILLIAN-BARRÈ SYNDROMES Inflammatory disorder of the peripheral nervesS 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).
    • GUILLIAN-BARRÈ SYNDROMES CAUSES;S Unknown.S AI destruction of myelin and/or axons.S Precedes by Infections.S Affects signals; S Weakness. S Numbness. S Paralysis.
    • GUILLIAN-BARRÈ SYNDROMES 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 Hodgkins disease. S Mononucleosis. S HIV.
    • GUILLIAN-BARRÈ SYNDROMES 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.
    • S COMPLICATIONS; GUILLIAN-BARRÈ SYNDROMES 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]
    • GUILLIAN-BARRÈ SYNDROMES 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.
    • GUILLIAN-BARRÈ SYNDROMES 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.
    • Charcot-Marie-ToothHereditary Motor & Sensory Neuropathy (HMSN I) S
    • 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).
    • S CLINICAL PICTURE; CHARCOT-MARIE-TOOTHS 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) Rombergs Test.S Generally NO PAIN.
    • CHARCOT-MARIE-TOOTH
    • S INVESTIGATIONS; CHARCOT-MARIE-TOOTHS EMG.S Genetic Testing.S Nerve Bx.
    • S MANAGEMENT; CHARCOT-MARIE-TOOTHS 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
    • PART IIIAbdullah H. Al-Asmri S
    • MYASTHENIA GRAVIS S
    • MYASTHENIA GRAVISS An autoimmune of neuromuscular junction.S Weakness of skeletal muscles.S Fatigability on exertion.
    • S PATHOPHYSIOLOGY; MYASTHENIA GRAVIS
    • NEONATAL MYASTHENIAS Neonatal Myasthenia Gravis GRAVIS
    • NEONATAL MYASTHENIA GRAVIS
    • NEONATAL MYASTHENIA GRAVIS
    • MYASTHENIA GRAVISS 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.
    • S CLINICAL PICTURE; MYASTHENIA GRAVIS CLINICAL PICTURES 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.
    • S DIAGNOSTIC STUDIES;S EMG. MYASTHENIA GRAVIS S More diagnostic than Bx. DIAGNOSISNormal. 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.
    • S TREATMENT; MYASTHENIA GRAVISS NO TREATMENT. S For Mild and transient MG. TREATMENTS Cholinesterase inhibitors. S Neostigmine. S PhysostigmineS Steroids.S I.V. IgS Plasmapheresis
    • S Thymectomy. MYASTHENIA GRAVIS S If high Ab titer. S Duration of symptoms < 2 years. TREATMENTS Neonates with transient maternally transmitted MG require cholinesterase inhibitors for only a few days or occasionally for a few weeks, especially to allow feeding.
    • S AVOID: MYASTHENIA GRAVISS Neuromuscular blocking agents. CAUTIONSS Aminoglycosides.
    • PART IVYahya M. AbuTalib S
    • DUCHENN MUSCULAR DYSTROPHY “Pseudohypertrophic Muscle Dystrophy” S
    • S An X-linked recessive (locus Xp2.1). DUCHENN MUSCULAR DYSTROPHYS Results from deficiency of dystrophin protein.S Onset: 3-5 years of age.S Incidence:- 1:3600 male.S Males > Females.
    • DUCHENN MUSCULAR DYSTROPHY
    • DystrophinProtein• It anchors the contractile muscle filaments to the surrounding membrane of muscle cells.
    • 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
    • DUCHENN MUSCULARDYSTROPHY• Affects axial and proximal muscles more than distal muscles.• Affects skeletal, smooth and cardiac muscles, and brain.
    • S CLINICAL PICTURE; DUCHENN MUSCULAR DYSTROPHYS Hypotonia. CLINICAL PICTURES Fatigability.S Difficulty in standing & walking.S Psedohypertrophy of calf & deltoid.S Toe walking.S Deformity of spine.S Cardiomyopathy.S Low IQ.
    • DUCHENN MUSCULAR DYSTROPHY CLINICAL PICTUREGower’s Sign Calf Muscle Swelling Waddling Gait
    • DUCHENN MUSCULAR DYSTROPHYS 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.
    • DUCHENN MUSCULAR DYSTROPHYS CK; S Greatly ↑↑↑ INVESTIGATIONSS MUSCLE BX; S Necrosis, fat cells & fibrous tissue.S CT BRAIN; S Brain atrophy.
    • DUCHENN MUSCULAR DYSTROPHY MANAGEMENT S SUPPORTIVE. S No Cure.
    • BECKER MUSCULAR DYSTROPHY S
    • S SIMILAR TO DUCHENN MUSCULAR DYSTROPY. BECKER MUSCULARS X-LINKED RECESSIVE. DYSTROPHYS SOME DYSTROPHIN IS PRESENT BUT IS ABNORMAL.S MILDER.S SLOWLY PROGRESSIVE.S CALLED: BENIGN PSEUDOHYPERTROPHY.
    • COMPARISON ------------------------- DUCHENN BECKER ONSET 3 - 5 years 5 - 15 yeas LIFE EXPECTANCY Teens 30s – 50sMENTAL RETARDATION Common Uncommon DYSTROPHIN Markedly ↓↓↓↓ May be normal; but the or even ABSENT protein itself is abnormal.
    • PRESENTED AS FULFILLMENT OF PEDIA II COURSE.WISH YOU ALL THE BEST; FROM: I. TAWHARI, M. ALHEFZI, A. AL-ASMRI, Y. ABUTALIB