What are the common symptoms and treatment options for a young to middle-aged adult, particularly females, with multiple sclerosis (MS)?

Symptoms of Multiple Sclerosis

Core Clinical Presentation

Multiple sclerosis typically presents in young adults (mean age 20-30 years) with discrete neurological episodes affecting vision, sensation, motor function, or coordination that develop over several days. 1

Primary Neurological Symptoms

The most common symptoms resulting directly from demyelination include:

• Optic neuritis - unilateral vision loss, often the presenting symptom 2, 1
• Sensory disturbances - numbness, tingling, pain, or vibratory sensations 3, 4
• Motor symptoms - weakness, muscle stiffness, spasticity 3, 1
• Diplopia and internuclear ophthalmoplegia - double vision from brainstem involvement 2, 1
• Myelopathy - partial spinal cord involvement causing weakness and sensory changes 2, 1
• Balance and gait dysfunction - incoordination, imbalance, ataxia 3, 4
• Lhermitte sign - electric shock sensation down the spine with neck flexion 4
• Bladder and bowel dysfunction - urgency, frequency, incontinence 3, 4

Symptom Characteristics

True MS relapses develop over hours to days, typically stabilize, and often resolve spontaneously, with genuine relapses lasting at least 24 hours and representing new inflammatory demyelinating activity. 2

Between relapses, patients remain neurologically stable but commonly experience:

• Fatigue - the most commonly reported symptom 3, 5
• Heat sensitivity - temporary worsening of symptoms with elevated body temperature 6
• Cognitive changes - impaired memory, concentration, or information processing 3, 1
• Mood disorders - depression, anxiety 3, 4

Secondary and Tertiary Complications

Secondary symptoms arise from primary demyelination 5:

• Urinary tract infections from bladder dysfunction 5
• Contractures from spasticity 5
• Decubitus ulcers from immobility 5
• Decreased bone density 5
• Muscle atrophy 5

Tertiary symptoms represent psychosocial impacts 5:

• Vocational disability 5
• Social isolation 5
• Psychological distress 5

Disease Patterns and Progression

Relapsing-Remitting MS (RRMS)

RRMS affects approximately 85% of patients at onset, characterized by acute inflammatory episodes with nerve conduction impairment during relapses that improves during remission, though cumulative myelin damage leads to progressive neuronal loss over time. 7, 2

Primary Progressive MS (PPMS)

PPMS affects approximately 15% of patients, presenting with steadily increasing neurological disability from onset without distinct relapses or remissions. 7, 2

Secondary Progressive MS

Over time, RRMS patients may transition to secondary progressive MS, where relapses become less frequent but disability accumulates steadily 7

Nutritional and Metabolic Manifestations

Weight loss, malnutrition, and even cachexia are well-recognized features of MS patients. 7

Contributing factors include 7:

• Reduced mobility and fatigue
• Physical difficulty eating or drinking
• Poor appetite
• Visual impairment
• Cognitive decline
• Dysphagia

Red Flags for Alternative Diagnoses

Atypical features requiring investigation for conditions other than MS include subacute onset over weeks, progressive evolution without stabilization, dementia or aphasia as presenting features, epilepsy at onset, and bilateral sudden hearing loss. 2, 8

Treatment Considerations

Disease-Modifying Therapies

Nine classes of disease-modifying therapies are available for relapsing-remitting MS and secondary progressive MS with activity, reducing annual relapse rates by 29-68% compared with placebo or active comparators. 1

Available DMT classes include 1:

• Interferons
• Glatiramer acetate
• Teriflunomide
• Sphingosine 1-phosphate receptor modulators
• Fumarates
• Cladribine
• Monoclonal antibodies (3 types)

Ocrelizumab is specifically approved for primary progressive MS. 1

Acute Relapse Management

Corticosteroids are the treatment of choice for acute, significant MS relapses causing functional impairment. 9, 4

Patients who do not adequately respond to corticosteroids may benefit from plasmapheresis as second-line therapy for severe, treatment-refractory relapses. 9, 4

Symptom-Specific Management

Successful symptom management through rehabilitation, pharmacological treatments, and when necessary surgical procedures is a key determinant of quality of life and the basis for improving physical and psychological function. 3

Management should address 4:

• Bowel and bladder dysfunction
• Depression
• Fatigue
• Movement disorders
• Pain

Patients with MS should be treated by a multidisciplinary team including physical and occupational therapists, speech and language therapists, mental health professionals, pharmacists, dietitians, neurologists, and family physicians. 4

Lifestyle Modifications

Patients with MS who smoke tobacco should be strongly encouraged to quit, as smoking is associated with worse disease outcomes. 4