Questions and Answers
Which of the following is NOT considered a secondary cause of sustained muscle contractions?
The Kayser-Fleischer ring is associated with an excessive deposition of copper in the kidneys.
False
What is the most sensitive screening test for Wilson's disease?
Increased 24 hour urine copper
A complication of a Salter-Harris Type III fracture is __________.
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Match the following clinical features of Wilson's disease with their corresponding letter in ABCD:
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Which symptom is NOT commonly associated with Brown-Sequard syndrome?
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Wilson's disease is an autosomal dominant disorder.
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What type of fracture classification includes injuries through the growth plate and epiphysis?
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What class of myasthenia gravis (MG) is characterized by generalized weakness with mild symptoms?
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AChR antibodies are primarily IgM type and are produced in the spleen.
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What is the average time between the onset of symptoms and diagnosis of myasthenia gravis?
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The reaction caused by AChR antibodies is classified as a type ___ hypersensitivity reaction.
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Match the following classes of myasthenia gravis with their descriptions:
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What effect do AChR antibodies have on the acetylcholine receptors?
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MuSK antibodies primarily belong to the IgG1 subtype.
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What common physical symptoms do individuals affected by ALS report?
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Which symptom is most commonly associated with progressive weakening of the muscles of mastication and swallowing?
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What type of weakness primarily characterizes AChR-positive MG?
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Frontotemporal dementia is characterized by early behavioral abnormalities and personality changes.
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Congenital myasthenic syndrome is a condition that occurs due to transplacental passage of maternal antibodies.
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What is the most commonly used oral acetylcholinesterase inhibitor for myasthenia gravis?
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What is the term for the absence of AChR, MuSK, or LRP4 antibodies in the presence of clinical signs or symptoms?
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Weakness followed by muscle __________ is a progression characteristic of the disease.
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Match the symptoms with their associated conditions:
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The presence of maternal antibodies that attack the neuromuscular junction is characteristic of __________.
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Which of the following antibodies is commonly found in patients with thymoma and AChR-positive MG?
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Which of the following is an early sign of muscle weakness?
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Match the myasthenia gravis subtype to its primary characteristic:
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Acetylcholinesterase inhibitors are used to decrease the availability of acetylcholine in patients with myasthenia gravis.
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The chance of remission in AChR-positive MG is higher than in MuSK-positive MG.
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List one indication for hospitalization in a patient with myasthenia gravis.
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What percentage of MG cases are attributed to AChR-positive MG?
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What is the normal cycle length range considered standard?
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A regular cycle has a variation in cycle length of greater than 9 days.
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What phase of the ovarian cycle represents the time during which the follicle and its oocyte develop?
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The ____ phase spans from ovulation to the onset of the next menses.
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Which hormone, released by the anterior pituitary, stimulates follicular development?
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Luteinizing hormone (LH) is responsible for initiating the menstrual cycle.
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Match the following menstrual cycle phases with their descriptions:
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The hypothalamus releases ____ to stimulate the anterior pituitary.
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Study Notes
Muscle Contractions and Movement Disorders
- Sustained muscle contractions can lead to abnormal postures and repetitive twitching.
- Conditions can be focal (e.g., blepharospasm, spasmodic dysphonia, torticollis) or segmental and generalized.
- Idiopathic primary causes include torsion dystonia, inherited in an autosomal dominant manner.
- Secondary causes may involve Wilson's disease, Huntington's disease, Parkinson's disease, anoxia, stroke, or drug-induced conditions.
Wilson's Disease
- An autosomal recessive disorder impacting copper metabolism.
- Excessive serum copper accumulation leads to deposition in liver, kidneys, cornea, and CNS, specifically in the basal ganglia.
- Key sign is Kayser-Fleischer ring, a golden brown-green deposit in the iris.
- Clinical features include hyperkinetic movement, tremor, parkinsonism, dysarthria, and cognitive disturbances.
- Diagnosis through increased serum copper, decreased ceruloplasmin, and increased 24-hour urine copper; liver biopsy is definitive.
- Management includes chelation therapy with penicillamine, trientine, and zinc.
Brown-Sequard Syndrome
- Caused by hemisection of the spinal cord, often due to trauma.
- Symptoms include ipsilateral weakness and joint position sense loss, with contralateral pain and temperature loss.
- Rarely involves bowel and bladder dysfunction.
Salter-Harris Type III Fracture Complications
- Salter-Harris classification details fractures involving the growth plate in pediatric bones.
- Type III: Fracture through the growth plate and epiphysis, leading to potential premature growth plate fusion and osteoarthritis.
- Type IV: Involves the growth plate, epiphysis, and metaphysis, similar complications to Type III.
Myasthenia Gravis (MG)
- Neonatal MG arises from maternal antibody transplacental transmission, resolving within two months.
- Congenital myasthenic syndrome is a hereditary form present from birth.
- AChR-positive MG constitutes 80% of cases, primarily affecting proximal limb muscles, with facial and respiratory weakness.
- Three antibody subtypes: binding (most common), modulating (found in thymoma), and blocking (less than 1% of cases).
- MuSK-positive MG involves mainly facial and bulbar weakness, less limb weakness, and is common in younger females.
- Classification of MG severity ranges from ocular MG (Class I) to generalized MG requiring intubation (Class V).
- Pathogenesis involves AChR antibodies causing postsynaptic membrane damage and muscle contraction failure.
Clinical Manifestations of Amyotrophic Lateral Sclerosis (ALS)
- Initial signs include asymmetrical limb weakness, cramping, gait instability, and fatigue.
- Symptoms progress to symmetrical weakness affecting multiple muscle groups.
- Speech and swallowing difficulties (dysarthria and dysphagia) are common.
- Exaggerated emotional expressions, pseudobulbar affect, and frontotemporal dementia may develop.
- Muscle atrophy, spasticity, and fasciculations indicate advanced disease.
- Typical complications include weight loss and poor executive functioning.
Treatment of Myasthenia Gravis
- Indications for hospitalization include severe bulbar symptoms, low vital capacity, and respiratory distress.
- Outpatient management is suitable for mild cases.
- First-line pharmacotherapy includes acetylcholinesterase inhibitors like pyridostigmine.
Menstrual Cycle and Hormonal Regulation
- Regular menstrual cycles last 24–38 days, with perimenopause causing shorter, more frequent cycles.
- Follicular phase: Begins on day 1 of menses and lasts until LH surge, facilitating follicle development.
- Luteal phase: Follows ovulation, supporting potential pregnancy for about 14 days.
- Endometrial cycle phases include desquamation, proliferation, and secretion in preparation for pregnancy.
- Hormonal regulation involves the hypothalamic-pituitary-ovarian axis, with GnRH stimulating FSH and LH release, which in turn stimulates ovarian functions and ovulation.
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