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Duchene muscular dystrophy
- 2. Case Presentation By Dr HaniaAfzal Resident Medicine
- 3. Biodata Name:Ahsan Age: 14 years Education: student of 8th class Resident: village near sargodha
- 4. Presenting Complain: Difficulty walking 7 yrs Outward bulge in chest 4-5 yrs Inability to walk 3 months
- 5. HOPC My patientwas in his usual state of health 7 yrs back when he gradually started developing difficulty in walking and used to walk on his toes initially for which visited multiple doctors who prescribed multivitamins but condition continued to progress. He used to sit from a standing position like a sudden fall and arising from sitting position was quite difficult for him. He was unable to use indian toilets due to that very reason and is using commode for last 7 years. He was unable to go upstairs and for going downstairs he used to jump with support.
- 6. HOPC His conditioncontinued deteriorating and started affecting his posture with formation of a bulge (about 4 yrs back), in his anterior chest which made walking more difficult for him and he used to walk in school with his back pack on as it helped him support his back and maintain an inclined posture. His difficulty in walk lead to multiple falls from standing position and one of such event lead to knee joint injury 4 months back after which he could never walk and needs wheel chair or an attendant to go to bathroom.
- 7. HOPC He still cancomb his hair with slight difficulty and can eat with both of his hands. He never had a rash, an episode of LOC, ASOC, urine or fecal incontinence or mental disability. His condition was not preceded by fever, flu, diarrhea or any other ailment or drug use.
- 8. Birth andDevelopmental Hx He is 3rd product of non consanguinous marriage, Born via SVD, breast fed for 2 yrs and achieved developmental milestones as a normal kid, with walk at 1.5 to 2 yrs of age but his speech was delayed to almost 3 yrs of age. Past Medical Hx He had chicken pox in early infancy, no other medical Hx of significance
- 9. Past SurgicalHx Not significant Drug Hx Calcium and vitamin supplements with occasional analgesics Vaccination Hx Fully vaccinated with EPI vaccines Received single dose of covid vaccine
- 10. Family Hx Hehas 2 alive healthy brothers and a sister. His maternal cousin(son of his aunt) who is younger than him has similar pattern of disease(not yet diagnosed). His maternal uncle died of a similar condition in his late 20s and his mother’s maternal cousin also had similar disease. Rest of the family Hx is insignificant.
- 11. Personal Hx Normal appetite normal sleep wake cycle Normal bowel habits No hx of blood transfusions, No hx of allergies or addictions He has chicken as pets at home
- 12. Travel Hx:Nil Socioeconomic Hx He belongs to a lower middle class family where father is the only earner(pipe fitter in PAF). He lives in a quarter with his parents and 3 siblings. Systemic Inquiry: Insignificant
- 13. Clinical examination Ateenager male patient, lying on hospital bed, well oriented in time, place and person (GCS 15/15) with vitals of BP: 100/60mmHg, Pulse: 68/min, SaO2: 98% on air RR: 16/min, Temp: afebrile, Regular pulse GPE
- 14. Jaundice: -ive Palor: +ive Clubbing:-ive Koilonychia: -ive Edema: -ive Neck Swelling: -ive Lymph Nodes: -ive Visible Pectus carinatum and lumbar lordosis
- 15. Lower limbs: Inspection revealedvisible genu valgus at B/L knee joints, B/L foot drop, prominent ankle joint and visible hypertrophy of calf muscles. Bandage on lateral aspect of left thigh with no visible fasciculations, tremors, involuntary movements or wasting. Clonus was negative. Bulk B/L equal and above normal in calf muscles i.e 12 inches on area of maximum bulge(6cm below knee), 13 inches B/L(10cm above knee) CNS & Musculoskeletal
- 16. Tone: Decreased inproximal muscles, rest normal Power: 3/5 in bilateral lower limbs Reflexes: Ankle jerk normal with hyporeflexia of knee jerk Plantars: B/L downgoing Gait: Patient is unable to walk Gower’s sign: positive Coordination: couldn’t be assessed Sensations: Intact crude touch, fine touch, 2 point descrimination, temperature, vibration and proprioception
- 17. Upper limbs: Inspection revealedwinging of right scapula, inward shoulders with no visible scars, fasciculations, tremors, involuntary movements or wasting. Bulk B/L equal and normal Tone: normal Power: 4/5 in proximal muscles, 5/5 in distal muscles including small muscles of hands. Reflexes: Normal Coordination: normal with no past pointing/dysdiadochokinesia Sensations: Intact crude touch, fine touch, 2 point descrimination, temperature, vibration and proprioception
- 18. Cranial Nerves: Normalexamination of all 12 cranial nerves
- 19. Chest: Inspection: Pigeon chestwith abdominothoracic type of breathing, Normal palpation, chest expansion, percussion with normal vesicular breathing on auscultation. Abdomen Soft, non tender CVS Audible 1st and 2nd heart sound Respiratory,Abdomen & CVS
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- 23. Proximal Myopathyd/t Duchenne Muscular Dystrophy Becker’s Muscular Dystrophy Endocrine disorders Idiopathic inflammatory myopathies including dermatomyositis and polymyositis DDs
- 24. Hb: 11.7with MCV: 87 TLC: 6.3 Plt: 229 CPK: 3470 AST: 142 LDH:687 CKMB: 160 ALT: 107, ALP: 705, Bilirubin: 11, Alb: 48 RFTs, S/E Normal Investigations
- 25. ECG sinusarrythmia 2D Echo Normal Usg of proximal lower limb muscles showed echogenicity predominantly at rectus femoris and bicep femoris long head MRI of Right thigh shows marked fatty replacement of perineal muscle and muscle of anterior compartment of thigh Muscle biopsy is consistent with dystrophy Investigations
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- 31. Physiotherapy MultiVitamins Management
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- 33. An inheritedprogressive myopathic disorder X-linked recessive form of muscular dystrophy Affects 1 in 3600 boys Caused by mutation in Dystrophin gene hence called ‘Dystrophinopathy’ Duchenne muscular dystrophy (DMD) is associated with the most severe clinical symptoms of Dystrophinopathies What it is…..
- 34. Mutation ofDystrophin gene on short arm of chromosome X (Xp21) Reduced or absent Dystrophin Etiology
- 35. Dystrophin Dystrophin islocated on the plasma membrane of muscle fibers, functioning as a component of Glycoprotein complex. Shields sarcolemma and glycoprotein complex Prevents digestion of glycoprotein complex by proteases Absence leads to degeneration of muscle fibres Pathophysiology
- 36. Clinical onsetb/w 2 to 3 yrs of age Proximal Muscles before Distal Pelvic, shoulder girdle, later limb and respiratory muscles Difficulty running, jumping, walking upstairs Waddling gait Lumbar lordosis Pseudohypertrophy of calf Features
- 37. Wheel chairbound by the age of 12 Positive Gower sign Cardiac manifestations DCM Arrythmias(especially SVT), atrial conduction defects Respiratory manifestations Respiratory insufficiency d/t restrictive lung disease Obstructive sleep apnea Hypoventilation Features
- 38. Intellectual disabilityin 30% pts ADHD(higher incidence) Orthopedic Complications long bone fractures Osteoporosis Progressive scoliosis Malignant Hyperthermia(dantrolene is antidote) Death within 15 yrs of onset Features
- 39. Clinical withpositive family Hx Increased Creatinine Kinase Elevated , AST, Aldolase, LDH Myopathic changes on EMG (low amplitude then becomes silent)and biopsy Molecular Genetic testing Diagnosis
- 40. Cardiac surveillance Treatment of DCM with ACE inhibitors and beta blockers Respiratory Spirometry Polysomnography Influenza and pneumococcal vaccine Early Management of chest infections NIPPV Management
- 41. Orthopedic Stretching/physiotherapy Avoid bed rest Night splints Surveillance radiographs Calcium and Vit D supplementation Management
- 42. Corticosteroid Therapy Prednisone 0.75mg/kg daily Or prednisone 10mg/kg over 2 days per week Deflazacort(0.9mg/kg daily) Eteplirsen(antisense oligonucleotide) Gene Therapy Management
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