Medical Genetics and Neurology Quiz

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is the main metabolic issue associated with Beriberi?

Impaired lipid metabolism

Impaired amino acid metabolism

Impaired glucose metabolism (correct)

Impaired nucleic acid metabolism

Which metabolic disorder is characterized by the absence of glucose-6-phosphatase?

McArdle’s disease

Beriberi

Tarui disease

von Gierke’s disease (correct)

Which autosomal dominant disorder is caused by a mutation in the fibrillin gene?

Ehlers Danlos syndrome

Marfan syndrome (correct)

Neurofibromatosis I

Huntington’s disease

How does Huntington's disease typically manifest over generations?

Symptoms appear earlier with each generation Signup and view all the answers

Which feature is common among disorders with anticipation in generations?

Symptoms appearing at a younger age in successive generations Signup and view all the answers

Ehlers Danlos syndrome primarily affects which type of biological structure?

Collagen Signup and view all the answers

In which of the following conditions is the severity of symptoms known to vary among patients?

Neurofibromatosis I Signup and view all the answers

Which neurotransmitter-related disorder is characterized by the release of immature B-cell progenitors?

B-cell Acute Lymphoblastic Leukaemia Signup and view all the answers

What is a primary cause of lobar haemorrhage?

Cerebral amyloid angiopathy Signup and view all the answers

What condition is often a consequence of multiple lacunar infarcts?

Vascular dementia Signup and view all the answers

Which neurons are more sensitive to hypoxia and suffer irreversible damage first?

Hippocampal pyramidal cells Signup and view all the answers

What is the typical recovery time for Bell’s palsy?

2 weeks to 6 months Signup and view all the answers

What complication is more severe in bacterial meningitis than in viral meningitis?

Cognitive confusion Signup and view all the answers

Which of the following symptoms are associated with vestibular schwannoma?

Unilateral hearing loss Signup and view all the answers

What cellular response follows the irreversible damage due to anoxia?

Formation of a glial scar Signup and view all the answers

What is a potential consequence of untreated hypertension related to lacunar infarcts?

Vascular dementia Signup and view all the answers

What is a primary cause of type I diabetes?

Autoimmune destruction of pancreatic B cells Signup and view all the answers

Which treatment option is primarily used for type II diabetes?

Incretin mimetics Signup and view all the answers

What symptom is NOT commonly associated with diabetes?

Bradycardia Signup and view all the answers

Which condition is characterized by damage to retinal blood vessels due to high blood glucose levels?

Diabetic retinopathy Signup and view all the answers

Which thyroid disorder is typically treated with thionamide drugs?

Hyperthyroidism Signup and view all the answers

What is one of the adverse effects of using carbimazole?

Agranulocytosis Signup and view all the answers

Which type of thyroid cancer is considered the most aggressive?

Anaplastic Signup and view all the answers

What is a characteristic symptom of hypothyroidism?

Bradycardia Signup and view all the answers

What typically occurs in secondary hyperparathyroidism?

High PTH due to low calcium Signup and view all the answers

Which disorder involves excessive production of FGF23 by osteocytes due to a tumor?

Tumor induced osteomalacia (TIO) Signup and view all the answers

What is the most common treatment for primary hyperparathyroidism?

Surgery to remove the tumor Signup and view all the answers

Which of the following is NOT a symptom of hyperthyroidism?

Myxoedema Signup and view all the answers

In the context of thyroid dysfunction, what does high serum TPO antibodies indicate?

Hypothyroidism Signup and view all the answers

Which condition can result in both hyperthyroidism and hypothyroidism due to inflammation?

Thyroiditis Signup and view all the answers

Which condition is primarily characterized by the lack of mineralization of osteoid bone in the developing skeleton?

Rickets Signup and view all the answers

What is a common symptom of osteoporosis?

Increased fractures Signup and view all the answers

Which adrenal disorder can result from a mutation affecting cortisol formation?

Congenital adrenal hyperplasia Signup and view all the answers

What is the main cause of secondary adrenal insufficiency?

Low ACTH levels Signup and view all the answers

What treatment is indicated for a patient experiencing an adrenal crisis?

Immediate saline infusion Signup and view all the answers

Which of the following conditions is treated with medication to block cortisol-producing enzymes?

ACTH-dependent Cushing’s disease Signup and view all the answers

Which symptom is NOT typically associated with pheochromocytoma?

Hypotension Signup and view all the answers

Obesity is classified as a disease when the Body Mass Index (BMI) reaches above what threshold?

30 kg/m2 Signup and view all the answers

Which of the following is a common consequence of obesity?

Increased cancer risk Signup and view all the answers

What dietary factor is most commonly linked to the development of obesity?

High processed foods consumption Signup and view all the answers

What hormone is primarily deficient in primary adrenal insufficiency?

Cortisol Signup and view all the answers

What condition is characterized by high aldosterone levels, leading to hypertension?

Conn's syndrome Signup and view all the answers

Which diagnosis method is commonly used to evaluate suspected Cushing’s syndrome?

24-hour free urinary cortisol test Signup and view all the answers

What metabolic effect does ingesting liquorice have that may mimic high aldosterone levels?

Inhibition of cortisol metabolism Signup and view all the answers

Which treatment option is a lipase inhibitor used in managing obesity?

Orlistat Signup and view all the answers

What are the criteria for diagnosing metabolic syndrome?

High waist circumference and hypertension Signup and view all the answers

Which condition is characterized by the autoimmune targeting of nicotinic ACh receptors?

Myasthenia Gravis Signup and view all the answers

Which of the following disorders primarily affects only upper motor neurons?

Progressive Supranuclear Palsy Signup and view all the answers

What is a common symptom of Guillain-Barre syndrome?

Ascending muscle weakness Signup and view all the answers

Duchenne muscular dystrophy is primarily caused by mutations in which gene?

Dystrophin gene Signup and view all the answers

What is the main effect of botulinum toxin on neuromuscular junctions?

Inhibits ACh release Signup and view all the answers

Which of these symptoms is typically not observed in motor neurone disease?

Hyperreflexia Signup and view all the answers

What is a characteristic finding in a patient with Myasthenia Gravis when muscles are fatigued?

Diminished muscle strength Signup and view all the answers

In which condition does demyelination of central nervous system axons occur?

Multiple sclerosis Signup and view all the answers

Which type of nerve damage is defined as complete transection of the nerve fiber?

Neurotmesis Signup and view all the answers

Which of the following is a common symptom of diabetic neuropathy?

Tingling or numbness in limbs Signup and view all the answers

What is the hallmark sign of Rhabdomyolysis?

Dark-colored urine Signup and view all the answers

What does a positive Babinski reflex indicate?

Upper motor neuron lesion Signup and view all the answers

What is the primary cause of achondroplasia in most cases?

De novo mutation during gametogenesis Signup and view all the answers

What characteristic symptom is associated with osteogenesis imperfecta?

Easily broken bones Signup and view all the answers

What genetic basis does cystic fibrosis have?

Autosomal recessive Signup and view all the answers

Which of the following is a consequence of Duchenne’s muscular dystrophy?

Weakness and atrophy of muscles Signup and view all the answers

What is a characteristic of Kearns-Sayre syndrome (KSS)?

Eye muscle paralysis Signup and view all the answers

What condition is caused by a maternal inheritance pattern?

Mitochondrial disorders Signup and view all the answers

What is a result of Roberts onian translocation?

Formation of one large chromosome Signup and view all the answers

What developmental disorder is characterized by improper fusion of the neural tube?

Spina bifida Signup and view all the answers

What condition may be associated with 13 trisomy?

Patau syndrome Signup and view all the answers

What symptom is commonly seen in Turner syndrome?

Underdeveloped sexual characteristics Signup and view all the answers

Which marker is commonly used in genome-wide association studies (GWAS) to identify multifactorial conditions?

Single nucleotide polymorphisms Signup and view all the answers

What defines a characteristic of Bardet-Biedl syndrome?

Monogenic obesity with kidney disease Signup and view all the answers

What does the term 'gonadal mosaicism' refer to in osteogenesis imperfecta?

Mutation only occurs in some gametes of the parent Signup and view all the answers

What is the primary issue associated with Crocodile tear syndrome?

Misrouting of motor axons to lacrimal gland Signup and view all the answers

Which condition results from damage to enteric neurons leading to swallowing difficulties?

Achalasia Signup and view all the answers

What is a common symptom associated with Irritable Bowel Syndrome (IBS)?

Bloating and change in bowel habits Signup and view all the answers

What is the main cause of Parkinson's disease?

Dopamine deficiency Signup and view all the answers

Which congenital condition is characterized by the absence of enteric nervous system neurons?

Hirschsprung’s Disease Signup and view all the answers

What symptoms are commonly observed in cases of cerebral hemorrhage?

Bleeding within the skull Signup and view all the answers

Which of the following outcomes is likely after a spinal cord transection?

Loss of function below the injury level Signup and view all the answers

Which syndrome results from damage to one side of the spinal cord?

Brown-Sequard syndrome Signup and view all the answers

Which of the following conditions is typically diagnosed through chorionic villus sampling?

DiGeorge Syndrome Signup and view all the answers

What triggers the tearing response in Crocodile tear syndrome?

Smell of food Signup and view all the answers

What is a typical result of compression on the sciatic nerve?

Pain and numbness down the leg Signup and view all the answers

What condition involves the formation of amyloid plaques leading to cognitive decline?

Alzheimer’s Disease Signup and view all the answers

What is a common cause leading to traumatic brain injury?

Skull fractures Signup and view all the answers

Which disorder is characterized by rigidity and a festinating gait?

Parkinson's Disease Signup and view all the answers

What can cause a lack of reflexes and difficulty walking on toes?

Sciatica Signup and view all the answers

What condition results from the incomplete fusion of the septum primum and septum secundum, allowing blood to mix between the atrial chambers?

Atrial septal defect Signup and view all the answers

Which of the following conditions is characterized by the presence of a rudimentary uterus in male embryos?

AMH deficiency Signup and view all the answers

What condition leads to the inability to produce dihydrotestosterone in males, affecting the development of external genitalia?

SRD5A2 deficiency Signup and view all the answers

Which disorder is characterized by an incomplete development of skin over the bladder, exposing the bladder?

Bladder exstrophy Signup and view all the answers

In which condition do the thoracic and abdominal organs develop in a mirror image to normal?

Situs inversus Signup and view all the answers

What is the primary consequence of hypogonadotropic hypogonadism in males during puberty?

Lack of secondary sexual characteristics Signup and view all the answers

Which disorder is characterized by the absence of both kidneys in its most severe form?

Renal agenesis Signup and view all the answers

What results from the incomplete sealing of the urachus, leaving a blind-ended tube from the umbilicus?

Urachal sinus Signup and view all the answers

Which condition may lead to infertility if testes fail to descend to the scrotum?

Cryptorchidism Signup and view all the answers

What hormonal deficiency is associated with central diabetes insipidus?

ADH Signup and view all the answers

What pituitary disorder is characterized by the hypersecretion of growth hormone, leading to acromegaly?

Pituitary adenoma Signup and view all the answers

What is the consequence of excess prolactin released due to a prolactinoma?

Menstrual irregularities Signup and view all the answers

What condition can develop due to pituitary apoplexy, which is characterized by sudden bleeding in the pituitary gland?

Hypopituitarism Signup and view all the answers

What is the main treatment approach for patients diagnosed with acromegaly?

Surgical intervention Signup and view all the answers

Which condition is a result of the improper fusion of the septum transversum with pleuroperitoneal folds?

Congenital diaphragmatic hernia Signup and view all the answers

Study Notes

Metabolic Deficiencies

Beriberi: Vitamin B1 deficiency, impacting glucose metabolism, particularly in the Krebs cycle.
von Gierke's disease: Absence of glucose-6-phosphatase.
McArdle's disease: Myophosphorylase deficiency.
Tarui disease: Phosphofructokinase (PFK) deficiency.

Meiosis and Cell Differentiation

B-cell Acute Lymphoblastic Leukaemia: Release of immature B-cell progenitors, rather than mature B-cells, into the bloodstream.

Mendelian Conditions (Single-Gene Disorders)

Autosomal Dominant

Neurofibromatosis I: Autosomal dominant neurological disorder, variable expression (mild to severe symptoms like tumors, intellectual disability, or cafe au lait spots).
Marfan syndrome: Autosomal dominant connective tissue disorder due to fibrillin gene mutation, variable expression, age-related penetrance (some don't show symptoms in childhood), and potential for excessive height, long limbs, heart defects, and lens dislocation. 25% of cases arise from de novo mutations.
Huntington's disease: Autosomal dominant neurodegenerative disease caused by a repeat sequence mutation (CAG repeats), age-related penetrance, and anticipation in successive generations (earlier disease onset in younger generations due to repeat expansion during spermatogenesis).
Breast cancer: Autosomal dominant, linked to BRCA1 gene mutation, age-related penetrance.
Myotonic dystrophy: Autosomal dominant, repeat sequence mutation, anticipation in generations.
Ehlers-Danlos syndrome (EDS): Range of autosomal dominant disorders affecting collagen formation, includes hypermobile EDS, classical EDS, vascular EDS (most serious), and kyphoscoliotic EDS; symptoms include joint hypermobility, pain, stretchy skin, easy bruising, and digestive issues.
Achondroplasia: Autosomal dominant disorder, often (80%) due to de novo mutation, leading to short limbs, short hands/feet, enlarged head, and delayed infant development.
Osteogenesis imperfecta: Autosomal dominant connective tissue disorder, sometimes inherited through gonadal mosaicism (parent may not be affected); results in easily fractured bones.

Autosomal Recessive

Cystic fibrosis: Autosomal recessive, mutation in CFTR gene affecting salt/water balance on body surfaces (especially lungs).

Sex-Linked Recessive

Duchenne muscular dystrophy (DMD): X-linked recessive disorder, dystrophin gene mutation, muscle weakness, atrophy, and reduced lifespan (16-24 years).

Mitochondrial Disorders

Kearns-Sayre syndrome (KSS): Progressive disorder affecting eye muscles, potentially impacting other organs (muscle weakness, heart block, hearing loss, ataxia, and cognitive function).
MELAS syndrome: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; symptoms like cognitive dysfunction, muscle weakness, seizures, speech difficulties, and headaches.

Chromosome Number Abnormalities (Aneuploidy)

Autosomal Trisomy

Trisomy 13 (Patau syndrome): Midline structural malformations, heart disease, incomplete brain lobation, typically death within a year.
Trisomy 18 (Edwards syndrome): Easily visible flexed fingers, heart and kidney problems.
Trisomy 21 (Down syndrome): Flattened face, short neck, small ears/hands/feet, low muscle tone, short stature, intellectual impairment (mild to moderate).

Sex-Linked Aneuploidy

Klinefelter syndrome (47XXY): Extra X chromosome in males, tall stature, infertility, underdeveloped secondary sexual characteristics (small testicles).
Turner syndrome (45X): Missing/partially missing X chromosome in females, short stature, lymphedema, infertility, lack of puberty.

Chromosome Structure Abnormalities

Robertsonian translocation: Fusion of long arms of two non-homologous acrocentric chromosomes (13, 14, 15, 21, or 22); risk of trisomy/monosomy in offspring.
Reciprocal translocation: Exchange of genetic material between non-homologous chromosomes. Leads to variable outcomes in offspring (balanced carriers, partial trisomy/monosomy, or normal).

Common Complex (Multifactorial) Conditions

Conditions influenced by polygenic predispositions and environmental factors, including obesity, cancer, asthma, coronary artery disease, diabetes, hypertension, neural tube defects, autism, schizophrenia, multiple sclerosis.

Embryological Abnormalities

Spina bifida: Improper neural tube fusion, underdeveloped vertebral arch, open vertebral column; ranging from myelomeningocele (spinal cord herniation) to meningocele (meninges herniation) to spina bifida occulta. Risk factors include folic acid deficiency, maternal obesity, diabetes, and AEDs.
Anencephaly: Failure of cranial neuropore to close, incomplete development of forebrain and skull; can cause polyhydramnios.
Twin-twin transfusion syndrome: MZ twins sharing a placenta with one fetus receiving more blood than the other.
Pre-eclampsia: Maternal pregnancy complication characterized by hypertension and proteinuria; incomplete fusion of cytotrophoblast cells with maternal arteries.
Situs inversus: Rare condition where thoracic and abdominal organs develop in a mirror-image configuration.
Congenital diaphragmatic hernia: Improper fusion of septum transversum with pleuroperitoneal folds leading to herniation of abdominal organs into pleural cavity.
Atrial septal defect: Incomplete fusion of septum primum and septum secundum, allowing right and left atrial blood mixing.
Omphalocele: Incomplete retraction of midgut loops from vitelline duct, leading to herniation of abdominal viscera at the umbilical ring during birth.
Renal agenesis: Congenital absence of one or both kidneys, leading to oligohydramnios (low amniotic fluid).
Pelvic kidney: Kidneys failing to ascend to their abdominal position.
Horseshoe kidney: Fusion of the two kidneys as they ascend.
Urachal fistula: Persistence of the allantois, allowing urine leaking from the umbilicus.
Urachal sinus: Incomplete sealing of the urachus, leaving a blind-ended tube from the umbilicus, potentially infected.
Urachal cyst: Fluid-filled sac within the urachus, potentially infected.
Bladder exstrophy: Incomplete closure of the skin over the bladder anteriorly, leaving the bladder exposed.
Androgen insensitivity syndrome: Incomplete male genitalia development due to inability of cells to respond to testosterone.
AMH deficiency: Male embryos with persistence of Mullerian ducts (rudmentary uterus), potentially undescended testes.
Gonadal dysgenesis: Impaired female gonadal development, frequently linked to Turner syndrome.
Cryptorchidism: One or both testes failing to descend to the scrotum; can resolve naturally, but if not, it can lead to infertility, herniation, and increased risk of tumors.

Gonadal Disorders (CEP)

Androgen insensitivity syndrome: Inability of male cells to respond to testosterone. Underdevelopment/absence of male genitalia and sexual characteristics.
SRD5A2 (5α-reductase) deficiency: Inability to produce dihydrotestosterone, leading to impaired male external genitalia development and infertility.

Hypothalamic Disorders (CEP)

Hypogonadotropic hypogonadism: GnRH deficiency, leading to low FSH and LH levels; delayed/absent secondary sexual characteristics, lack of growth spurt, infertility (males: micropenis, cryptorchidism, absent facial hair; females: no menstrual cycle, breast development).
Kallmann syndrome: Hypogonadotropic hypogonadism combined with a weakened/absent sense of smell.
Central diabetes insipidus: ADH deficiency (hypothalamus or posterior pituitary injury/tumor/infection), causing polyuria, polydipsia, nocturia, dehydration, and orthostatic hypotension.

Pituitary Disorders (CEP)

Hypopituitarism: Pituitary gland cannot produce one or more hormones, symptoms dependent on specific hormone deficiency (GH, TSH, ACTH, LH/FSH, prolactin); often treated by hormone replacement. Causes may include sarcoidosis, haemochromatosis, pituitary apoplexy (bleeding/impaired blood supply), radiotherapy, tumors, or trauma.
Pituitary adenoma: Pituitary gland tumor, potential hypersecretion of hormones (e.g., GH – acromegaly, TSH – hyperthyroidism); causes compression of neighboring structures; potential headaches (trigeminal nerve), cranial nerve damage, vision loss (optic chiasma), CSF leak (rhinorrhea), hypothalamic damage. Treatment varies depending on severity and factors like pituitary surgery, medication, radiotherapy.
Acromegaly: Excess GH secretion, enlarged hands/feet/facial structures, muscle weakness, joint pain, cardiovascular issues; diagnosed by oral glucose tolerance test, IGF-I blood levels, and pituitary imaging, and treated through various surgical and medical approaches.
Prolactinoma: Excess prolactin release from tumor, inhibits FSH/LH release, causing hypogonadism and galactorrhea; treated through medication, radiation, or surgery.
FSHoma: Tumor-related excess FSH secretion, causes menstrual irregularity, ovary hyperstimulation (females), testicular enlargement (males), and infertility; treated depending on case.

Diabetes (CEP)

Type I diabetes: Autoimmune destruction of pancreatic beta cells, low insulin; typically in children/young adults, rapid onset; treated by insulin injections.
Type II diabetes: Insulin resistance, often high insulin levels; treated through various medications. Common symptoms include polyuria, thirst, blurred vision, tiredness, and potentially coma. Complications include weight loss, ketoacidosis, macrovascular and microvascular complications (retinopathy, nephropathy, neuropathy) .

Thyroid Disorders (CEP)

Hyperthyroidism: Excessive thyroid hormone; symptoms like tachycardia, weight loss, hyperactivity, tremors, bulging eyes, weakness; caused by Graves' disease, toxic nodular goiter, thyroiditis, pituitary adenoma (increased TSH), or neonatal factors; treated with thionamides, surgery, or radioactive iodine.
Hypothyroidism: Insufficient thyroid hormone; symptoms like bradycardia, weight gain, depression, dry skin; causes include autoimmune disorders (Hashimoto's thyroiditis), treatment for hyperthyroidism, iodine deficiency, or congenital defects; treated with levothyroxine therapy.
Thyroid cancer: Can be papillary, follicular, medullary, or anaplastic; treated with thyroidectomy, partial thyroidectomy, radioiodine, and/or tyrosine kinase inhibitors.

Parathyroid Disorders (CEP)

Primary hyperparathyroidism: Parathyroid tumor hypersecreting PTH; high PTH, high calcium, low phosphate; symptoms include fatigue, thirst, kidney stones, joint pain, fractures, high blood pressure, and confusion; treated by surgery.
Secondary hyperparathyroidism: Low calcium levels (renal disease/vitamin D deficiency) triggering PTH overproduction; high PTH, normal/low calcium, high phosphate; treated by phosphate binders and vitamin D supplements.

Hypophosphatemic Disorders (CEP)

Tumour induced osteomalacia (TIO): Excessive FGF23 production by osteocytes due to tumors.
X-linked hypophosphatemic rickets: Mutation in PHEX protease affecting FGF23 breakdown; elevated FGF23 levels.
Autosomal dominant hypophosphatemic rickets (ADHR): Mutation in the FGF23 gene itself, increasing its resistance to PHEX breakdown, thus keeping its levels high.

Bone Disorders (CEP)

Rickets: Lack of osteoid bone mineralization in developing skeleton (children); caused by vitamin D deficiency, TIO, XLR, or ADHR; symptoms include swollen joints and bowlegs.
Osteomalacia: Lack of osteoid bone mineralization in adult skeleton; caused by vitamin D deficiency, TIO; symptoms like bone pain and pseudofractures.
Osteoporosis: Loss of bone density (mineral and non-mineral components), increased fracture risk, naturally from aging and menopause, or due to steroid use; treated with hormone replacement, denosumab, bisphosphonates, or teriparatide.

Adrenal Disorders (CEP)

Primary adrenal insufficiency (Addison's disease): Adrenal cortex cannot produce hormones (cortisol, aldosterone, DHEA); low cortisol/aldosterone, low DHEA (except CAH), high ACTH, high renin; symptoms include fatigue, weight loss, hyperpigmentation, hyponatremia, and nausea; causes include Addison's disease, autoimmune adrenalitis, congenital adrenal hyperplasia (CAH), or adrenoleukodystrophy. Treated by hormone replacement. — Secondary adrenal insufficiency: Low ACTH by pituitary, leading to insufficiency; low cortisol/DHEA, low ACTH, normal renin/aldosterone; causes include hypopituitarism or glucocorticoid medication leading to cortex atrophy. Treated with hormone replacement.
Tertiary adrenal insufficiency: Decreased CRH secretion, potentially after stopping glucocorticoid medications or transsphenoidal surgery. — Adrenal crisis: Medical emergency caused by insufficient glucocorticoids (low ACTH or stopping medication), hypotension, unconsciousness, circulatory failure; treated with immediate saline infusion, hydrocortisone injection, and subsequent hydrocortisone infusion.
Cushing’s syndrome (ACTH-dependent): High ACTH causing high cortisol; symptoms incl central obesity, moon face, purple striae, etc.; diagnosis by 24-hour free urinary cortisol and midnight cortisol; treated through various approaches including surgery to remove ACTH source.
Cushing’s syndrome (ACTH-independent): High cortisol due to adrenal cortex hyperactivity (e.g., carcinoma); diagnosis similar to ACTH-dependent; treated with techniques depending on tumor characteristics.
Conn's syndrome: Excess aldosterone (mineralocorticoid); severe hypertension, hypokalemia; treated through surgery or medication.
Pheochromocytoma: Adrenal medulla tumor causing excessive catecholamine release; hypertension, headaches, tachycardia; treated by tumor removal.
Apparent mineralocorticoid excess syndrome: Liquorice ingestion inhibits the enzyme 11beta-HSD2, thus causing cortisol to bind mineralocorticoid receptors.

Obesity (CEP)

Obesity defined as BMI > 30kg/m2; associated with increased risk of various diseases; various classes (I, II, III); multifactorial causes (diet, medication, mental health issues, lack of exercise, sleep, stress, alcohol); potential endocrine and hypothalamic causes (hypogonadism, hypothyroidism, GH deficiency, Cushing's); potential monogenic causes; diagnosed by BMI, treatment varies by cause.

Metabolic Syndrome (CEP)

Defined when obesity linked to two or more conditions (high waist circumference, high triglycerides, low HDL cholesterol, hypertension, high blood glucose).

Neuromuscular Junction Disorders (NAS)

Myasthenia gravis: Autoimmune attack on nicotinic ACh receptors at neuromuscular junctions, causing muscle weakness; treatment with ACh esterase inhibitors.
Botulism: Botulinum toxin preventing ACh exocytosis, causing paralysis. Used in Botox treatments.
Nerve gases: Inhibit ACh esterase leading to prolonged muscle activation and potentially fatal respiratory failure.

Motor Neuron Disorders (NAS)

Motor neuron disease (MND): Progressive degeneration of motor neurons, leading to paralysis and death (respiratory failure).
Amyotrophic lateral sclerosis (ALS): MND affecting upper and lower motor neurons.
Poliomyelitis: Viral infection targeting and killing motor neuron cell bodies; muscle paralysis, and respiratory failure. Immunization has drastically reduced its impact.
Progressive supranuclear palsy: MND affecting upper motor neurons only, leading to balance and voluntary movement issues.

Demyelinating Disorders (NAS)

Guillain-Barre syndrome: Autoimmune condition causing peripheral neuropathy; characterized by ascending muscle weakness; usually recovers.
Multiple sclerosis (MS): Autoimmune condition affecting CNS axons; demyelination causing various symptoms, including muscle weakness/spasticity, sensory issues, bladder dysfunction, ataxia, and ophthalmoplegia; typically relapsing and remitting.
Diabetic neuropathy: Diabetes increases risk of chronic inflammatory demyelinating polyneuropathy (CIDP); progressive muscle weakness & reduced sensation.

Skeletal Muscle Disorders (NAS)

Duchenne muscular dystrophy (DMD): X-linked recessive, dystrophin gene mutation, muscle atrophy.
Rhabdomyolysis: Muscle breakdown from trauma, over-exercise, toxins.

Physical Peripheral Nerve Damage

Neuropraxia: Temporary nerve dysfunction, usually from mild compression (recovery likely).
Axonotmesis: Damage to axon of nerve; potential reinnervation.
Neurotmesis: Complete transection of nerve fiber, with no likely recovery.

ENS-Specific Conditions (NAS)

Chagas' disease: Trypanosome parasite killing ENS neurons; compromised gut function.
Achalasia: Damage to enteric neurons in mouth/esophagus affecting swallowing(rare).
Hirschsprung disease: Congenital absence of ENS neurons in distal colon, causing colon paralysis and expansion; constipation.

Gut-Brain Axis Disorders (NAS)

Irritable bowel syndrome (IBS): Dysfunctional brain-ENS interaction leading to impaired ENS function, stomach pain, changes in bowel habits, bloating.

Neurodegenerative Disorders (NAS & MTM)

Parkinson's disease: Basal ganglia (substantia nigra) issue, dopamine deficiency; akinesia, bradykinesia, muscle rigidity, festinating gait.
Alzheimer's disease: Amyloid plaque aggregation, cognitive dysfunction, memory issues, cerebral amyloid angiopathy.

Neural Tube Defects (NAS)

Spina bifida: Covered previously in the Embryology section.

Damage to the Spinal Cord

Spinal cord transection: Severe spinal cord injury at specific level; loss of motor function, sensation, and autonomic function below the injury.
Brown-Sequard syndrome: Hemi-lesion in spinal cord; varies UMN/LMN issues dependent on side of spinal cord damaged.
Sciatica: Compression of the sciatic nerve, pain from lower back to leg, numbness, loss, difficulty walking on toes, bending foot.

Damage to the Brain

Skull fractures: Strong impact; potential bleeding, brain damage, CSF leak, infection, and seizures.
Traumatic brain injury: Subdural/epidural hematomas, ischaemic injury, diffuse axonal injury.
Cerebral hemorrhage: Blood vessel rupture.
Lobar hemorrhage: Localized brain bleeding, potentially due to cerebral amyloid angiopathy.
Lacunar infarcts: Restricted blood supply; brain tissue death, often from untreated hypertension.
Hypoxia: Low oxygen supply; potential irreversible cell damage.
Anoxia: No oxygen supply; irreversible neuron damage, tissue necrosis, glial scar formation.

Cranial Nerve Disorders

Bell's palsy: Facial nerve (CN VII) damage; ipsilateral facial muscle paralysis, taste issues.
Vestibular schwannoma (acoustic neuroma): Benign tumour of vestibular nerve (CN VIII) affecting hearing, balance, and facial nerves ; potentially surgically removed or treated with radiation.
Meningitis: Inflammatory condition affecting meninges; often infection-related, with various symptoms that can reflect inflammation (fever, headache, stiff neck, photophobia).

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

Description

Test your knowledge on various medical genetics and neurology topics. This quiz covers metabolic disorders, genetic mutations, and neurological conditions, including their symptoms and complications. Ideal for students and professionals in the health sciences field.