Motor Neuron Disease, ALS (Ideal Case Presentation)

MND (ALS) case presentation at Rajshahi Medical college hospital, Bangladesh.

1. WELCOME

2. A middle aged man with Limb Weakness and Dysarthria Presented By: Dr. AHMED TANJIMUL ISLAM MD (Thesis Student) Neuromedicine Department of Neuromedicine , RMCH

3. PARTICULARS OF THE PATIENT: NAME: SULTAN MEAH AGE: 48 Years OCCUPATION: Rickshaw pullar ADDRESS: Puthia , Rajshahi DATE OF ADMISSION: 20/05/2017

4. CHIEF COMPLAINTS : 1. Weakness of all four limbs for 8 months. 2. Difficulty in speech for 4 months. 3. Difficulty in swallowing for 4 months.

5. History of Presenting Illness : According to the statement of the patient he was reasonably alright 8 months back. Then he developed weakness in both lower limbs which was insidious in onset, gradually progressive associated with muscle wasting and twitching. 4 months later he noticed weakness in both hands like difficulty in grip and lifting hands above shoulder. These were followed by difficulty in swallowing more for liquids. He had also complains of nasal voice & nasal regurgitation.

6. The patient also developed slowness of voice and slurring of speech for last 4 months. He is unemployed and was dependent for most of his daily activities by the end of 5 th month. He had also episodes of night cramps in the calf muscles. He gave no history of any Radiating pain in upper or lower limbs, Diurnal variation , Sensory loss, Seizure, Headache, vomiting, bowel Bladder involvement, trauma (head, neck & back), Fever, memory & cognition loss. With the above complaints the patient was admitted to RMCH for better management.

7. History of Presenting Illness : Weakness (upper & lower limbs). Wasting of muscles (upper & lower limbs). Difficulty to Grip, lifting hands above shoulder Slurring of Speech, Nasal Voice. Difficulty in swallowing.

8. Limb Weakness Gradually progressive Twitching of muscles in trunk, arm, neck & shoulder (Occasional). Leg Cramps

9. Speech and Swallowing: Dysarthria Slurring of speech Difficulty in Swallowing (liquids> Solid).

10. Video

11. NO HISTORY of Radiating pain (upper or lower limbs). Diurnal variation Sensory loss Seizure Trauma (Head, neck & back) Bowel & Bladder involvement Fever Memory & Cognitive loss.

12. History of Past Illness: NO history of Diabetes Mallitus Hypertension Tuberculosis Asthma Jaundice

13. Family History: All his family members are well. Married. 3 children. No family history of same illness. Drug History: Proton pump inhibitor (PPI) irregularly

14. Personal History: Smoker : 20 years. 10 sticks/ day. Socio economic History: L ives in Semi pakka House. Rickshaw puller. Lower class. Immunization History: Can not give history about immunization. Allergy History: No history of allergy.

15. General Examination

16. General Examination Appearance Ill looking, Anxious Body Built Lean Thin Co operation Co operative Dicubitus On choice Anaemia Absent Jaundice Absent Cyanosis Absent Clubbing Absent Oedema Absent Dehydration Absent Koilonychia Absent Leuconychia Absent

17. Lymph Nodes (Cervical, Axillary , Inguinal) Non Palpable Thyroid Not Palpable Bony Tenderness Absent Respiratory rate 18 / min Pulse 90 / min (Regular) Blood pressure 110/80 mm Hg Postural drop Absent JVP Not Raised Temperature 98.6 F Weight 42 Kg

18. SYSTEMIC EXAMINATION

19. NERVOUS SYSTEM EXAMINATION

20. Higher psychic function: Normal GCS: 15/15 Behavior: Emotional state: Orientation of time, place person: Memory Intelligence: Speech: Except Speech which is dysarthic and nasal intonation .

21. Cranial Nerve Examination Olfactory/ Optic Oculomotor / Trochlear / Abducence :/Trigeminal/ Vesbibulocochlear : Normal Glossopharyngeal : Sluggish palatal reflex Pharyngeal Reflex: Lost Vagus : Gag reflex- Diminished Spinal accessory: Diminished shrugging of shoulders. Hypoglossal: Tongue wasting, Tongue facsiculations Inability to protrude the tongue

22. Upper & Lower Limb Examination: Inspection INSPECTION UPPER LIMB & LOWER LIMB Muscle Atrophy Thinner / Hypothenar Thigh, forearm Present Dorsal guttering Present Fasciculation Present Skin Changes Absent Hair Changes Absent Scar Mark Absent Pigmentation Absent Joint Deformity Absent

23. Motor System Examination: Bulk of the muscle: Reduced Tone: Increased / hypertonia Power: MRC Grading Upper Limb Lower Limb Right Left Right Left 9 cm 8cm 13 cm 12 cm LIMBS Upper Limb (Right) Upper Limb (Left) Lower Limb (Right) Lower Limb (Left) MRC Grade 4 4 3 3

24. Reflexes : Jerks Right Left Deep Reflexes Ankle Exaggerated Exaggerated Knee Exaggerated Exaggerated Supinator Exaggerated Exaggerated Biceps Exaggerated Exaggerated Triceps Exaggerated Exaggerated Superficial Reflexes Planter Absent Absent Abdominal, Cremesteric Exaggerated

25. Sensory System Examination Superficial Sensations: Touch, Pain, Temperature Intact Deep Sensations: Proprioception , Vibration Intact Discriminative sensory function Intact Steriognosis , Localization of touch Two point discrimination Intact

26. Co ordination: Finger nose test: Intact Heel knee test: Intact Gait: Altered gate rhythm & less steady gait due to mild foot drop.

27. Spine Examination Tenderness Absent Deformities Absent Range of motion Absent Meningeal Signs Neck rigidity Kernig’s Sign Brudzinski’s Sign: Absent

28. Emotional Labile: Absent Mini mental Scoring: 28/30

29. Cardiovascular system examination: Apex Beat: 5 th ICS, MCL Heart sounds: Normal. Murmur, Thrill : Absent Respiratory system examination: Trachea: Central Breath sound: Vescular with prolonged expiration Added sound: No

30. Abdominal Examination : Liver, spleen, kidney : Not palpable Paraaortic lymph nodes: Not palpable Ascites : Absent Muskuoskeletal system examination: Bony deformity: Absent NAD Dermatological Examintaion : NAD

31. Provisional Diagnosis ?

32. DIFFERENTIAL DIAGNOSIS ?

33. Differential Diagnosis Motor Neuron Disease (ALS)

34. Differential Diagnosis Motor Neuron Disease (ALS) Syringomyelia with Syringobulbia

35. Differential Diagnosis Motor Neuron Disease (ALS) Syringomyelia with Syringobulbia Brainstem SOL

36. Points in favor Points Against MND Limb weakness Wasting Fasciculations Dysarthria Dysphagia Syringomyelia & Syringobulbia Wasting Weakness Dysphagia No dissociated sensory loss All jerks exeggarated (Upper Limb) Brainstem SOL Dysphagia Dysarthria Cranial nerve involvement Gradually progressive No raised ICP feature Vomiting, Headache

37. INVESTIGATIONS

38. Routine Investigations 1 st line Investigations Result Complete Blood Count Hb % 11.9 % WBC 9000/ cumm Platelet 2.6 lac / cumm ESR 20 mm 1 st hour CRP 2 mg /dl RBS 6.8 mmo /l S. Creatinine 0.9 mg/dl Urine R/E Normal Study Chest X ray P/A Normal Study ECG Normal Study

39. Chest X ray: Normal Study

40. ECG: Normal findings

41. X Ray Cervical Spine: Normal Study

42. Investigations 2 nd Line Investigations S. Electrolytes Na: 138, K: 4.8; Cl : 98 TSH 4.8 IU/ ml CPK 64 U/l PEFR Normal range. USG of Whole Abdomen Normal Study

43. Investigations: Specific Investigations: MRI Brain MRI Cervical Spine Nerve Conduction Study (NCS) Electromyography (EMG)

44. MRI Brain/Cervical Spine: Normal Study

45. NCS Study

46. NCS Report:

47. NCS Report

48. NCS Result Nerve conduction Test 24/05/17 Amplitude: Normal Conduction velocity: Normal Distal latency: Normal Conduction block: Normal H reflex: Normal

49. EMG Study

50. EMG Report : Electromyography Date: 25/05/2017 Insertional activity: Increased Sponteneous activity: Fibrillation Motor unit potential: Large Unit Interference pattern: Fast firing rate EMG finding is consistent with Anterior horn disease (MND)

51. Confirmed Diagnosis: ‘Motor Neuron Disease’ (MND) ‘Amyotrophic Lateral Sclerosis’

52. Treatment: No curative treatment. Only symptomatic & supportive treatment. Nutritional Care Speech Therapy Respiratory Therapy Palliative care Occupational Rehabilitation Neuroprotective agents: Riluzol , Vit E, Co Enzyme Q 10,

53. Prognosis of ALS: A progressive disorder. Remission is unknown. Fatal within 3-5 years. 5% survive > 10 years. Young Patient with bulbar symptoms: Rapid Course. Ultimate cause of Death: Respiratory failure Pneumonia

54. Poor Prognostic Factors: Bulbar onset of pattern. Aggressive presentation ( Shorter onset- Diagnosis) Rapid Progression rate. Dyspnea at onset. FTD- ALS presentation.

55. Age 22

56. Disease started (age 27)

57. Wheel Chair bound (Age 30)

58. Remote Control Use (Age 33)

59. Total immobile (Age 40) Cognition & Memory: intact

60. Needs artificial electronic parts (Age 43)

61. Needs Computer electronic support

62. THANK YOU