MSC Neuro 25 p2
.pdf
In women, hormonal fluctuations especially during menstruation play a significant role.
Clinical Forms and Course
Headache is unilateral, pulsating, lasting several hours to days.
Associated with nausea, vomiting, photophobia, phonophobia.
Aura includes visual disturbances, sensory changes, temporary neurological deficits.
Frequency varies from yearly to weekly attacks.
Prodromal mood changes (irritability, lethargy), aura, headache, and postdrome fatigue occur sequentially.
Migraine status is a prolonged attack requiring emergency treatment.
Diagnosis
Based on clinical history and symptoms.
No specific lab test; imaging to rule out other causes if indicated.
Diagnostic criteria include typical headache features and aura when present.
Treatment
Preventive (Prophylactic)Therapy:
Aspirin and other NSAIDs
Calcium channel blockers (nifedipine, verapamil)
Nicotinic acid preparations
Beta-blockers (propranolol, atenolol)
Antidepressants (tricyclics like amitriptyline)
Tranquilizers
Anticonvulsants (valproate, topiramate)
Vasodilators, nootropics, disaggregants (pentoxifylline) AcuteAttackTreatment:
Analgesics (acetylsalicylic acid, paracetamol)
Ergot derivatives (ergotamine) for vasoconstriction
Serotonin receptor agonists (triptans)
NSAIDs (indomethacin, ibuprofen)
Antiemetics for nausea
Supportive care: rest, darkness, hydration Non-Pharmacologic:
Psychotherapy, relaxation techniques, biofeedback, acupuncture, physical therapy
Avoid triggers such as foods containing tyramine (chocolate, aged cheese, red wine), stress
Emergency Management:
For status migrainosus (severe prolonged migraine), hospital care with IV fluids, analgesics, antiemetics, muscle relaxants
33, 34. Classification of hereditary diseases of the nervous system progressing hereditary muscular dystrophies: pathogenesis, clinical characteristics, diagnosis, treatment. Childhood pseudohypertrophic Duchenne myodystrophy. Facial-shoulder-shoulder myodystrophy of Landuzi-Dejerin, limb-girdle myodystrophy of Herb Roth. Clinical features.
Classification of Hereditary Muscular Dystrophies
1.Duchenne Muscular Dystrophy (DMD)
Most severe form, X-linked recessive inheritance.
Caused by absence of dystrophin protein—critical for muscle fiber stability.
Affects boys mostly; symptoms begin by 1 year, with difficulty walking by 6- 10 years.
Clinical signs: symmetrical muscle weakness, Gowers’sign (climbing up using hands), pseudohypertrophy of calves ("gnome calves"), lordosis, facial features ("sphinx face"), "Mona Lisa smile".
Cardiomyopathy, adrenal hypoplasia, osteoporosis develop.
Diagnosis: very high serum creatine phosphokinase (CPK), EMG, muscle biopsy, genetic testing.
Gene therapy is a promising treatment approach at research level.
No cure; treatment focuses on maintaining muscle function, preventing contractures, and cardiac care.
2.Becker Muscular Dystrophy (BMD)
Milder X-linked recessive form with partially functional dystrophin.
Onset and progression are slower than DMD.
Muscle weakness and wasting in adolescence or adulthood.
Diagnosis and treatment similar to DMD but prognosis better.
3.Emery-Dreifuss Muscular Dystrophy
May be X-linked or autosomal.
Muscle weakness starts in pelvic girdle and neck.
Features: joint contractures, cardiac arrhythmias.
Slow progression; cardiac complications determine prognosis.
4.Facioscapulohumeral Muscular Dystrophy (Landouzy-Dejerine)
Autosomal dominant inheritance.
Onset between 6-52 years, usually 10-15 years.
Affects facial muscles first: difficulty closing eyelids, facial expression changes, slow progression to shoulder and limb muscles.
5.Limb-Girdle Muscular Dystrophy (Erb-Roth)
Usually autosomal recessive.
Onset in childhood or adolescence.
Proximal limb muscle weakness causes "duck-like" waddling gait.
Difficulty climbing stairs and lifting arms.
Gradual progression leads to disability over years.
Pathogenesis
Genetic mutations impair proteins crucial for muscle structure and function (mainly dystrophin in DMD/BMD).
Leads to muscle fiber breakdown, chronic inflammation, fibrosis, and replacement by fat.
Muscle degeneration manifests as weakness and atrophy.
Diagnosis
Elevated serum CPK (often markedly raised).
Electromyography shows muscle fiber abnormalities.
Muscle biopsy reveals dystrophic changes.
Genetic testing confirms specific mutations.
Treatment
No definitive cure; treatment is supportive.
Goal: maintain muscle strength, delay contractures, optimize quality of life.
Physical therapy: daily active & passive exercises, contracture prevention, breathing exercises.
Gentle massage: avoid overexertion to prevent increased weakness.
Pharmacologic: corticosteroids to slow progression (especially DMD).
Surgery: correction of contractures and scoliosis.
Cardiac care: pacemaker implantation if needed.
Genetic counselling and emerging gene therapy are advanced options.
35.Myasthenia gravis. Pathogenesis, clinical variants, Syndromology, treatment, emergency care. Myasthenic syndromes.
Myasthenia Gravis: Summary for Medical Students
Pathogenesis
Autoimmune disorder of the neuromuscular junction.
Most cases caused by IgG1 and IgG3 autoantibodies against acetylcholine receptors (AChR) on the postsynaptic muscle membrane.
Antibodies bind and block receptors, activate complement leading to destruction of the postsynaptic membrane and loss ofAChRs.
This reduces neuromuscular transmission, causing muscle weakness and fatigue.
Some patients have antibodies against muscle-specific kinase (MuSK), disrupting AChR clustering.
Thymus gland abnormalities (hyperplasia, thymoma) contribute to autoimmunity.
T and B cell dysfunction leads to sustained antibody production and inflammation.
Clinical Variants
By age: neonatal, juvenile, adult onset.
By antibody status: seropositive (AChR or MuSK antibodies), seronegative.
By severity: ocular (eye muscles), bulbar (speech, swallowing), generalized (limbs, trunk).
Course: stable, progressive, myasthenic crisis (acute respiratory failure).
Forms: mild, moderate, severe; myasthenic status and malignant forms with rapid progression.
Clinical Features (Syndromology)
Muscle weakness and fatigue worsened by exertion, improves with rest.
Ocular symptoms: ptosis, diplopia.
Bulbar symptoms: dysarthria, dysphagia.
Limb and trunk weakness.
Respiratory muscle involvement can lead to crisis requiring ventilation.
Reflexes usually normal; atrophy uncommon unless prolonged disuse.
Variable severity.
Diagnosis
Clinical symptoms and fatigue pattern.
Autoantibody testing (AChR, MuSK).
Electromyography (repetitive nerve stimulation, single-fiber EMG).
Imaging (CT/MRI) of thymus.
Response to anticholinesterase drugs.
Treatment
Anticholinesterase inhibitors: pyridostigmine (prozerin) improves neuromuscular transmission.
Immunosuppressants: corticosteroids (prednisolone), azathioprine, others if corticosteroids fail.
Thymectomy: especially for thymoma or early onset.
Plasmapheresis and intravenous immunoglobulins (IVIG): for crisis or pre-surgery.
Management of myasthenic crisis: airway support with ventilation, immunomodulatory treatment.
Avoid drugs worsening MG (aminoglycosides, beta blockers, magnesium, etc.).
Myasthenic Crisis
Definition: Acute worsening of myasthenia gravis causing severe respiratory muscle weakness, potentially leading to respiratory failure.
Presentation: Sudden shortness of breath, difficulty swallowing, speech changes, cyanosis, increased use of accessory muscles, or altered consciousness.
ImmediateActions:
Ensure airway and breathing; provide supplemental oxygen.
Prepare for intubation and mechanical ventilation if indicated (signs of respiratory distress, hypoxia, or inability to maintain airway).
Monitor vital signs and forced vital capacity (FVC); a rapid drop in FVC signals impending crisis.
Identify and treat underlying triggers (infection, medication changes).
Emergency Medical Treatment
Respiratory Support:
Non-invasive ventilation (BiPAP) may help mild-moderate cases.
Intubation and invasive ventilation for severe distress.
Plasmapheresis and IVIG:
Plasmapheresis (plasma exchange) rapidly removes pathogenic autoantibodies from circulation.
Intravenous immunoglobulin (IVIG) is alternative/immediate therapy.
AnticholinesteraseAgents:
Continue or adjust pyridostigmine; avoid excessive dosing (risk of cholinergic crisis).
Immunosuppression:
Glucocorticoids and/or immunosuppressants if not already dosed.
Medication Precautions:
Avoid drugs that worsen MG (aminoglycosides, fluoroquinolones, beta blockers, magnesium).
ICU Monitoring: Most patients require close ICU-level observation, including respiratory parameters and continuous cardiac monitoring.
Myasthenic Syndromes (Broadly)
Includes acquired myasthenia gravis and congenital myasthenic syndromes.
Congenital forms result from genetic mutations affecting neuromuscular junction proteins; present at birth or childhood, not antibody-mediated.
Acute crisis does not typically occur in congenital syndromes; immunosuppression is not indicated.
Key Points for Emergency Care
Quick recognition of respiratory failure is essential.
Early airway protection and mechanical ventilation can be lifesaving.
Plasmapheresis and IVIG are first-line in crisis with rapid effect.
Avoid drugs that exacerbate myasthenia gravis.
Consult neurology and ICU teams urgently in all suspected crises.
36.Spinal amyotrophy: general characteristics, clinical features, diagnosis, treatment. SpinalAmyotrophy (Spinal MuscularAtrophy, SMA):
General Characteristics
SMAis a group of hereditary neuromuscular diseases characterized by degeneration of the anterior horn cells of the spinal cord leading to progressive muscle weakness and atrophy.
Inherited mostly as autosomal recessive (types I-III), with a gene defect on chromosome 5q11.2-13.3 affecting survival motor neuron protein (SMN).
Adult-onset form (type IV) is X-linked affecting androgen receptor gene on X chromosome.
Pathomorphology
Degeneration in anterior horn cells and demyelination of anterior nerve roots.
Similar changes in motor nuclei of cranial nerves (V, VI,VII, IX, X, XI, XII).
Muscle biopsy shows grouping of atrophied and preserved fibers with connective tissue hyperplasia.
Clinical Forms
1.Werdnig-Hoffmann Disease (Type I, Infantile SMA)
Symptoms appear prenatally or within the first six months.
Severe muscle hypotonia, weakness, mainly in proximal muscles.
Bulbar dysfunction: poor sucking, weak cry, tongue fasciculations.
Limited motor milestones, rapid progression.
Associated with skeletal deformities (scoliosis, "chicken chest").
Most die before 2 years due to respiratory failure.
2.Chronic Infantile SMA(Type II, Dubowitz)
Onset at 6-24 months.
Motor milestones partially achieved.
Subacute progression with muscle tremor, contractures.
Bulbar signs in late stages.
Survival into adolescence (14-15 years).
3.Kugelberg-Welander (Type III, Juvenile SMA)
Onset 4-7 years.
Proximal limb weakness, muscle fasciculations, slow progression.
Bulbar signs less severe.
Patients can walk for 10-12 years after onset.
Moderate severity.
4.Adult-Onset SMA(Type IV, Kennedy Disease)
Onset after 25-30 years.
X-linked inheritance.
Progressive proximal leg weakness, bulbar symptoms, testicular atrophy, gynecomastia.
Slow progression, normal lifespan.
5.Hereditary Distal SMA
Distal muscle weakness, early loss ofAchilles reflex.
Autosomal recessive or dominant inheritance depending on subtype.
Slow progression
Diagnosis
Molecular genetic testing identifying SMN1 gene deletions/mutations.
Electromyography showing anterior horn cell involvement.
Muscle biopsy showing characteristic neuropathic changes.
Differentiation from muscular dystrophies and other neuromuscular conditions based on clinical and laboratory findings.
Treatment
No definitive cure.
Supportive care includes respiratory support, nutrition.
Physical therapy to maintain function and prevent contractures.
Genetic counselling.
New disease-modifying therapies aimed at increasing SMN protein are emerging.
37.Amyotrophic lateral sclerosis: clinic, diagnosis, prognosis.
Amyotrophic Lateral Sclerosis (ALS):
Clinic (Clinical Features)
Chronic progressive neurodegenerative disease affecting both upper and lower motor neurons.
Causes muscle weakness and atrophy.
Early symptoms often include:
Muscle twitching (fasciculations)
Weakness affecting arms, legs, hands, or speech muscles
Bulbar symptoms: difficulty speaking (dysarthria), swallowing (dysphagia), and breathing in advanced stages.
Combination of:
Peripheral signs: muscle wasting, reduced reflexes, fasciculations.
Central signs: spasticity, exaggerated tendon reflexes.
Atrophy often starts in small hand muscles, then limbs and torso; facial and bulbar muscles affected later or early in bulbar-onset form.
Pseudobulbar signs (inappropriate emotional expression) may develop.
Patients typically present in their 40s-50s.
Duration varies between 4-12 years from onset to death, prognosis generally poor.
Diagnosis
Clinical diagnosis supported by:
Electromyography (EMG): shows acute and chronic denervation.
Nerve conduction studies: usually normal sensory conduction.
Exclusion of other diseases (imaging, blood tests).
Diagnostic criteria include combined signs of upper and lower motor neuron degeneration.
Prognosis
Progressive, with no cure.
Death usually results from respiratory failure.
Bulbar-onset type has worse prognosis.
Pathogenesis (Summary)
Degeneration and loss of motor neurons in the brain, brainstem nuclei, and spinal cord anterior horns.
Cause unknown; theories include neurodegeneration, viral infection, toxic injury.
Morphological changes involve lateral corticospinal tracts and motor nuclei of cranial nerves (6,9,10,11).
38.Brain tumors: classification, clinic, diagnosis; sub and supratentorial tumors, features of the course. Treatment.
Brain Tumors:
Classification
Tumors are classified by location relative to the tentorium:
Supratentorial tumors: Located in cerebral hemispheres or anterior/middle cranial fossae.
Subtentorial tumors: Located in posterior fossa structures like cerebellum, brainstem.
By histogenesis and cell type (L.I. Smirnov classification):