Makindo Medical Notes

Related Subjects: |Neurological History taking |Motor Neuron Disease (MND-ALS) |Miller-Fisher syndrome |Guillain Barre Syndrome |Multifocal Motor Neuropathy with Conduction block |Multiple Sclerosis (MS) Demyelination |Transverse myelitis |Acute Disseminated Encephalomyelitis |Progressive Multifocal Leukoencephalopathy (PML) |Inclusion Body Myositis |Cervical spondylosis |Anterior Spinal Cord syndrome |Central Spinal Cord syndrome |Brown-Sequard Spinal Cord syndrome |Spinal Cord Compression |Spinal Cord Haematoma |Spinal Cord Infarction

🧠 Multiple Sclerosis (MS) is a chronic, immune-mediated disease of the central nervous system (CNS) that causes demyelination and progressive neurological disability.

📊 Epidemiology

• 👥 Affects ~100,000 people in the UK.
• 🚶‍♀️ Most common cause of serious physical disability in working-age adults.
• ⚖️ Prevalence: ~1 in 500, women affected twice as often as men.
• ☀️ More common at higher latitudes (possible vitamin D link).

🔬 Pathology

• Well-defined demyelinating plaques in brain and spinal cord.
• Infiltration with CD8+ T-cells, B-cells, plasma cells, complement.
• Myelin destroyed but axons initially preserved → impaired saltatory conduction ⚡.
• Common sites: periventricular white matter, optic nerves, cervical cord, brainstem, cerebellar peduncles.

🩺 Clinical Presentation

• Requires ≥2 distinct CNS episodes separated in time ⏳ and space 🌍.
• Clinically Isolated Syndrome (CIS): Single demyelinating event (may progress to MS).
• Optic Neuritis 👁️: Monocular vision loss, pain on eye movement. 25% of patients, 50% risk of MS.
• Fatigue 💤: Severe and disabling.
• Transverse Myelitis: Spastic weakness, sensory level, bladder dysfunction, Lhermitte’s sign ⚡.
• Cerebellar: Ataxia, nystagmus, diplopia, wide-based gait.
• Brainstem: INO, dysarthria, facial numbness.
• Sensory: Paraesthesia, trigeminal neuralgia.
• Uhthoff’s Phenomenon 🔥: Worsening in heat (e.g., hot bath).
• Cognitive/psychiatric: Memory loss, mood change, advanced dementia.

🌀 Forms of MS

• Relapsing-Remitting (RRMS): 85%. Attacks with recovery between episodes.
• Primary Progressive (PPMS): 10–20%. Steady progression from onset.
• Secondary Progressive (SPMS): RRMS evolves into steady decline.
• Fulminant MS: Rare (<10%), rapid disability.

📏 Diagnostic Criteria

• Dissemination in time (DIT) + space (DIS) required (McDonald criteria).
• MRI with gadolinium highlights active plaques ✨.

🧪 Investigations

• Bloods: FBC, ESR/CRP, LFTs, U&E, Ca, glucose, TFT, B12, HIV.
• CSF: Oligoclonal bands (IgG).
• Visual Evoked Potentials: Abnormal in 95% 📉.
• MRI: FLAIR/T2 lesions, T1 “black holes” for axonal loss.

💊 Management

• Acute Relapse: Methylprednisolone 0.5 g daily × 5 days.
• Disease-Modifying Therapy (DMTs):
  • 🧬 Interferon beta (relapsing MS, ↓ relapse by ~⅓).
  • 💉 Glatiramer acetate.
  • ⚠️ Mitoxantrone (cardiotoxic risk).
  • 🔒 Natalizumab (aggressive MS, risk of PML).

⚖️ Symptom Management

• Fatigue: Amantadine, exercise, yoga.
• Spasticity: Baclofen, tizanidine, botulinum toxin.
• Oscillopsia 👀: Gabapentin, memantine.
• Bladder Dysfunction 🚻: Tolterodine, self-catheterisation.
• Emotional lability 😊😢: Amitriptyline.
• Nocturnal enuresis 🌙: Desmopressin spray.

📉 Prognosis

• Better: Onset <40, female, optic neuritis/sensory onset, complete recovery early.
• Worse: Male, truncal ataxia, tremor, pyramidal signs, progressive course.

📚 References

• NICE Guidance on MS Treatment

Cases — Multiple Sclerosis (MS)

• Case 1 — Optic Neuritis 👁️: A 27-year-old woman presents with subacute painful loss of vision in her right eye, worsened by eye movements. Exam: reduced visual acuity, central scotoma, relative afferent pupillary defect. Diagnosis: Optic neuritis as the first presentation of MS. Management: High-dose IV methylprednisolone; MRI brain/spine for demyelinating lesions; neurology follow-up for DMT (disease-modifying therapy).
• Case 2 — Transverse Myelitis 🦵: A 32-year-old man develops sudden bilateral leg weakness, sensory loss up to the umbilicus, and urinary urgency. Exam: spastic paraparesis, brisk reflexes, sensory level at T10. MRI spine shows demyelinating plaques. Diagnosis: Relapse of MS presenting as transverse myelitis. Management: IV steroids for relapse; physiotherapy; bladder management; long-term DMT (e.g., interferon, ocrelizumab).
• Case 3 — Brainstem Involvement 🎯: A 29-year-old woman complains of double vision and vertigo. Exam: internuclear ophthalmoplegia (failure of left eye adduction with right eye nystagmus). MRI: periventricular white matter lesions. Diagnosis: MS relapse with brainstem involvement. Management: IV steroids; DMT initiation; supportive neurorehab.
• Case 4 — Progressive MS ⏳: A 45-year-old man with past relapsing MS now has insidiously worsening gait stiffness and difficulty with bladder control over 2 years, without clear relapses. Exam: spastic paraparesis, broad-based gait. Diagnosis: Secondary progressive MS. Management: Symptomatic — baclofen/tizanidine for spasticity, bladder medications, neurorehab; consider newer progressive MS therapies (e.g., siponimod, ocrelizumab).

Teaching Commentary 🧠

MS is a chronic, immune-mediated demyelinating disorder of the CNS, typically affecting young adults (20–40 years), more common in women. Key subtypes: - Relapsing–remitting (RRMS): most common initial course. - Secondary progressive: develops after years of RRMS. - Primary progressive: gradual progression from onset. Clinical signs are disseminated in time and space: optic neuritis, transverse myelitis, brainstem/INOs, sensory and motor relapses. Dx: MRI (disseminated white matter lesions), CSF oligoclonal bands. Mx: acute relapses (IV methylprednisolone), long-term disease-modifying therapies (interferons, ocrelizumab, natalizumab, fingolimod), and symptomatic treatment. Red flags: progressive, asymmetric, or peripheral signs suggest MS mimics (NMO, sarcoid, vasculitis).