Autoimmune & Demyelinating Diseases

Understanding Autoimmune & Demyelinating Diseases

Autoimmune neurological diseases occur when the body’s immune system mistakenly attacks components of the nervous system. Demyelinating diseases specifically target myelin — the protective insulating sheath around nerve fibers — disrupting the transmission of nerve signals. These conditions can affect the brain, spinal cord, optic nerves, and peripheral nerves.

Early diagnosis and appropriate immunotherapy can significantly improve outcomes and prevent disability. Dr. Chetan Padghan provides expert care for the full spectrum of autoimmune and demyelinating neurological conditions.

Types of Autoimmune & Demyelinating Diseases

Multiple Sclerosis (MS)

The most common demyelinating disease of the central nervous system:

Types of MS:

• Relapsing-remitting MS (RRMS) — the most common form; episodes of new or worsening symptoms (relapses) followed by periods of recovery (remissions)
• Secondary progressive MS (SPMS) — gradual worsening after an initial relapsing-remitting course
• Primary progressive MS (PPMS) — gradual worsening from onset without distinct relapses

Common Symptoms:

• Visual disturbances — optic neuritis (pain with vision loss), double vision
• Numbness, tingling, or pins-and-needles sensations
• Limb weakness or stiffness (spasticity)
• Balance and coordination problems (ataxia)
• Fatigue — one of the most disabling symptoms
• Bladder and bowel dysfunction
• Cognitive changes — difficulty with concentration, memory, and processing speed
• Lhermitte’s sign — electric shock sensation down the spine on neck flexion

Neuromyelitis Optica Spectrum Disorder (NMOSD)

A distinct autoimmune condition often confused with MS:

• Severe optic neuritis — causing significant vision loss
• Longitudinally extensive transverse myelitis — inflammation spanning 3 or more vertebral segments
• Area postrema syndrome — intractable nausea, vomiting, and hiccups
• Associated with aquaporin-4 (AQP4) antibodies in most cases
• MOG antibody disease — a related but distinct condition
• Requires different treatment from MS — some MS medications can worsen NMOSD

Autoimmune Encephalitis

Immune-mediated inflammation of the brain:

• Anti-NMDA receptor encephalitis — psychiatric symptoms, seizures, movement disorders, and altered consciousness; more common in young women
• LGI1 encephalitis — memory problems, seizures (especially faciobrachial dystonic seizures)
• CASPR2 encephalitis — limbic encephalitis, neuromyotonia, peripheral nerve hyperexcitability
• Other antibody-mediated encephalitis — GABA-B, AMPA, DPPX antibodies

Acute Disseminated Encephalomyelitis (ADEM)

• Acute inflammatory demyelinating condition, more common in children
• Often follows a viral infection or vaccination
• Presents with encephalopathy and multifocal neurological deficits
• Usually monophasic (single episode) with good recovery

Other Autoimmune Neurological Conditions

• Transverse myelitis — inflammation of the spinal cord
• Optic neuritis — inflammation of the optic nerve
• CNS vasculitis — inflammation of blood vessels in the brain
• Neurosarcoidosis — sarcoidosis affecting the nervous system
• Stiff person syndrome — muscle stiffness and spasms due to anti-GAD antibodies
• Neuro-Behçet’s disease — neurological involvement in Behçet’s disease

Diagnostic Approach

Clinical Evaluation

• Detailed history of neurological symptoms — onset, progression, relapses, and remissions
• Comprehensive neurological examination
• Assessment for dissemination in time and space (key for MS diagnosis)
• Evaluation for systemic autoimmune conditions

Investigations

• Brain and spinal cord MRI with contrast — the most important investigation; identifies demyelinating lesions, their distribution, and activity
• CSF analysis — oligoclonal bands (MS), cell count, protein, cytology, antibody testing
• Autoimmune antibody panels — AQP4 antibodies, MOG antibodies, NMDA receptor antibodies, and other specific antibodies
• Visual evoked potentials (VEP) — to detect optic nerve demyelination
• Optical coherence tomography (OCT) — measures retinal nerve fiber layer thickness
• Blood investigations — autoimmune markers, vitamin levels, infection screening

Treatment Approach

Acute Relapse Management

• High-dose intravenous methylprednisolone — first-line treatment for acute relapses
• Plasmapheresis (plasma exchange) — for severe relapses not responding to steroids
• Intravenous immunoglobulin (IVIG) — alternative for selected patients

Disease-Modifying Therapy (DMT) for MS

Long-term medications to reduce relapse frequency and slow disability progression:

Injectable therapies:

• Interferon beta preparations
• Glatiramer acetate

Oral therapies:

• Fingolimod, siponimod
• Dimethyl fumarate, diroximel fumarate
• Teriflunomide
• Cladribine

Infusion therapies:

• Natalizumab
• Ocrelizumab
• Rituximab
• Alemtuzumab

Treatment for NMOSD

• Acute relapses — steroids, plasmapheresis, IVIG
• Relapse prevention — rituximab, azathioprine, mycophenolate, eculizumab, satralizumab, inebilizumab
• Important — many MS medications (interferon, fingolimod) can worsen NMOSD

Treatment for Autoimmune Encephalitis

• First-line — steroids, IVIG, plasmapheresis
• Second-line — rituximab, cyclophosphamide
• Tumor screening — especially for anti-NMDA receptor encephalitis (ovarian teratoma)
• Long-term immunosuppression to prevent relapse

Symptom Management

• Spasticity management — baclofen, tizanidine, physiotherapy
• Fatigue management — amantadine, modafinil, energy conservation strategies
• Pain management — neuropathic pain medications
• Bladder management — medications, self-catheterization when needed
• Cognitive rehabilitation
• Depression and anxiety treatment

Living with Autoimmune Neurological Disease

• Understanding your condition and treatment plan
• Regular follow-up with MRI monitoring
• Medication adherence and monitoring for side effects
• Exercise and physiotherapy — proven benefits for MS
• Vitamin D optimization
• Vaccination considerations while on immunotherapy
• Pregnancy planning — coordination with neurologist before conception
• Support groups and patient education

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Dr. Chetan Padghan provides specialized care for autoimmune and demyelinating neurological conditions in Pune. If you are experiencing neurological symptoms that may be autoimmune in nature, early evaluation is critical. Schedule a consultation today.