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Diseases & Illnesses


Lennox-Gastaut Syndrome (LGS) Severe disorder consisting of various and multiple sz types ~Continuation of IS ~Each case is unique ~Difficult to tx ~Onset b/t age 2-6 years ~Tonic szs most common ~50% have neuro and/or cognitive impairment.
Creutzfeldt-Jacob Disease (CJD) Either inherited or acquired by infected tissue (like Mad Cow Disease) ~Adult onset ~Can be transmitted ~Death occurs usually 3-12 months after transmission ~Symptoms: Dementia w/in weeks, Myoclonic jerks or sz, Personality change, Speech impairment.
Kuru (The Laughing Sickness) Similar to Mad Cow Disease but is found in humans ~Incubation period is 10 to 13 years ~ Symptoms similar to CJD: Severe coordination problems, Difficulty walking, Difficulty swallowing & feeding self ~Pathologic bursts of laughter.
Parkinson's Disease Idiopathic genetic degenerative mvt disorder of CNS ~Death of dopamine cells in substantia nigra ~Begins slowing in daily acts, small and rigid handwriting, immobile face expressions, shoulder stoop, small steps, balance, limb tremors at rest.
Hepatic Encephalopathy Cirrhosis of the liver due to alcoholism or hepatitis ~Stages I & II may present normally ~Consciousness ranges from confusion to coma at stage III ~Reversible toxicity.
Hypoglycemia (Low Blood Sugar) Metabolic encephalopathy ~Impairment of brain function ~Effects: mild dysphoria to more serious issues such as unconsciousness, and (rarely) permanent brain damage or death ~Focal or generalized sz ~Reversible condition with diminishment.
Tuberous Sclerosis (Greek: tuber = swelling and skleros = hard) (TSC) Nodules on face ~Causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin ~Genetic ~Cognitive delay ~Between 25%-61% pts are dx autism ~Generalized or CP szs.
Cerebral Vascular Disease (CVD) A group of brain dysfunctions related to disease of the blood vessels supplying the brain ~Hypertension is the most important cause; it damages the blood vessel lining ~Includes: CVA, Hemorrhage, Tumor, Aneurysm, Infarct.
Drug Overdose - OD (AEDs) Symptoms: lethargy, slurred speech, imbalance, blurred/double vision, ~reversible toxicity ~Barbiturates such as Phenobarbital and Primidone may cause additional EEG changes.
Hypoxic Ischemic Encephalopathy - Anoxia Caused by near drowning, cardiac arrest, etc (significant loss of O2) - quick changes in neurons.
Space Occupying Lesions Damage by disease or trauma ~Brain tumors - Most form in meninges and carried to brain from other areas of the body to grow in CNS. Some common sources: Cranial nerve # 8, pituitary gland, lung, breast, skin, gastric, kidney.
Rett's Syndrome Only in females ~Normal development until age 16-18 months, then rapid deterioration of mental development (within 1-2 years, pt regresses to levels of autism or dementia) ~Disorder of grey brain matter ~80% have TC and Atypical Absence sz by 4 yo.
Alzheimer's Disease Most common form of dementia ~Worsens as it progresses ~No cure ~Generalized - involves entire brain and effects all lobes ~Onset 60+ years (before 60 is considered pre-senile) ~Progressive forgetfulness, cannot carry out normal life.
Huntington's (Chorea) Disease (Greek for Dance) (HD) Extremely destructive genetic disabling movement disorder ~Eventual profound, irreversible dementia ~First symptoms not seen until middle age so children are usually already affected - 1/2 of children born from these parents are affected.
Multiple Sclerosis (MS) Demyelinating inflammatory disease ~Onset around age 30-40 years, common in women ~Body's immune system attacks / damages myelin. ~Myelin loss results in numbness, paralysis, disturbed vision, and other malfunctions.
Lou Gehrig's Disease (ALS - Amyotrophic Lateral Sclerosis) Motor Neurone Disease The most common form of the motor neuron diseases ~An incurable neurological illness marked by massive loss of muscle bulk and severe motor impairment ~Muscles involving speech, swallowing, talking, and breathing may be affected.
Gerstmann-Straussler-Scheinker Syndrome (GSS) Extremely rare fatal neurodegenerative disease that affects patients from 20 to 60 years in age ~Resembles CJ and Kuru but is genetically transmittable ~Symptoms include: Fever, tachycardia w/o evidence of inflammation or infection, akinetic mutism.
Cerebral Palsy (CP) Umbrella term encompassing a group of non-progressive, non-contagious motor conditions that cause physical disability in human development, chiefly in the various areas of body movement ~Usually caused pre-natal ~ Usually no identified cause.
Cerebral Edema Excess accumulation of water in the intracellular or extracellular spaces of the brain ~Can be due to a coup / contracoup injury (opposite side of brain injury to body part affected).
Down's Syndrome - Trisomy 21 (Mongolism) Extra copy of a chromosome (3 instead of 2) ~Symptoms are: Cognative impairment, heart and gastric problems, specific physical features of eyes, fingers and toes, skeletal problems, and possible sz - most frequently TC ~Increased percentage of IS.
Fragile X Syndrome Mostly effects boys ~Some symptoms are: cranio/facial and ear abnormalities, cognitive impairment, learning problems, severe ADD, Sz (TC and CP in 25-45% of pts).
Turner's Syndrome Only affects females ~Gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility ~Epilepsy is not frequent and so far only few cases.
Subacute Sclerosing Panencephalitis (SSPE) (Rubeola Exposure) *Rubeola is not the same as Rubella ~Rare chronic progressive encephalitis in children & young adults ~Cause= persistent measles ~No cure. Managed tx w/ early tx ~Symptoms: progressive cognitive decline, personality change, eye abn, szs, myoclonic jerks, ataxia, spasticity, persistent coma.
Rubella (German Measles) *Rubeola is not the same as Rubella Usually acquired (some congenital) airborne from upper respiratory ~Lasts 1-3d. Children recover quicker ~Congenital symptoms: cloudy corneas, deafness, delay, sleepiness, irritability, low birth weight, impaired, szs, microcephaly, skin rash at birth.
Prader-Willi Syndrome (PWS) Sister of Angelman Syndrome ~Effects boys and girls ~Symptoms: short stature, hypotonia, speech & cognitive delay, small hands & feet, scoliosis, inability to vomit, low muscle tone, incomplete sexual development, chronic hunger/obesity, sometimes sz.
Angelman Syndrome (Happy Puppet Syndrome) Sister syndrome of PWS caused by a similar gene loss ~Symptoms: easily excitable, microcephaly, occipital flatting, tongue protrusion, ataxia, optic atrophy, cognitive delay, sleep disturbance, sz, hand-flapping, frequent laughter or smiling.
Coffin Lowry Syndrome (CLS) Rare genetic disorder ~Affects males and females in equal numbers ~Symptoms: craniofacial and skeletal abnormalities, mental retardation, short stature, hypotonia, broad nose, prominent brow, down-slant eyes, wide space eyes, large low ears.
Bell's Palsy Temporary facial paralysis resulting from damage or trauma to one of the facial nerves ~Symptoms usually begin suddenly and reach their peak within 48 hours.
Encephalitis (With Meningitis is known as Meningoencephalitis) Acute inflammation of the brain ~Symptoms: HA, fever, confusion, drowsiness, fatigue ~More advanced and serious symptoms include seizures or convulsions, tremors, hallucinations, and memory problems.
Erb's Palsy Paralysis of arm caused by injury to the upper group of the arm's main nerves, specifically the upper trunk C5-C6 is severed ~Usually from shoulder dystocia during a difficult birth ~Can resolve on its own over months, rehabilitative therapy, or surgery.
Syncope - Fainting Transient loss of consciousness and postural tone characterized by rapid onset, short duration, and spontaneous recovery ~Usually preceded dizziness, "blackout", loss of hearing, loss of feeling, nausea, weakness, heat, palpitations (all temporary).
Fibromyalgia Syndrome (FM or FMS) Chronic widespread pain, heightened and painful response to pressure, debilitating fatigue, sleep disturbance, and joint stiffness, numbness and tingling ~Usually associated with psychiatric conditions such as depression and anxiety.
Hydrocephalus (Water in the Brain) Abnormal accumulation of (CSF) in the ventricles, or cavities, of the brain ~May cause increased intracranial pressure inside the skull and progressive enlargement of the head, convulsion, and mental disability ~Infant fontanelle may grow.
Hypoxia Pathological condition which the body as a whole or a region is deprived of adequate oxygen supply ~Causes: high altitude, diving, difficulty breathing, preterm birth in the neonate (lack of lung development - most common type).
Lyme Disease Most common tick-borne disease in the Northern Hemisphere ~Early symptoms (tx antibiotics): fever, headache, fatigue, depression, characteristic circular skin rash called erythema migrans (EM) ~Left untreated, involve joints, heart, CNS.
Macrencephaly A condition present at or soon after birth in which the brain is abnormally large. ~Many people with this are healthy. ~Pathologic may be due to enlarged brain or hydrocephalus.
Tay–Sachs Disease Harmful quantities of cell membrane components accumulate in brain's nerve cells, cause premature cell death ~Deterioration of mental & physical abilities around 6 mo of age and usually death by 4yo ~No known cure or tx. ~Symptomatic red spot on retina.
Meningitis Inflammation of protective membranes of brain & SC ~Caused mostly by infection, less commonly drugs ~Can be life-threatening and is classified as a medical emergency ~Symptoms: HA, neck stiffness, fever, confusion, vomiting, photophobia and phonophobia.
Microcephaly Neuro-developmental disorder in which the circumference of the head is more than 2 standard deviations smaller than average ~In general, life expectancy is reduced and the prognosis for normal brain function is poor and varies depending on severity.
Myoclonus Brief, involuntary twitching of a muscle or a group of muscles ~Generally, is not a diagnosis of a disease ~Most common encounter is while falling asleep or hiccuping but can also be a sign of a number of neurological disorders.
Myopathy A muscular disease in which the muscle fibers do not function for any one of many reasons, resulting in muscular weakness ~The primary defect is within the muscle, as opposed to the nerves, or elsewhere such as the brain.
Narcolepsy Excessive sleep attacks at inappropriate times ~REM stage of sleep within 5 minutes; whereas most REM is an hour or so later ~Significant problems are muscle weakness and sudden cataplexy, (a sudden muscular weakness brought on by strong emotions).
Tardive Dyskinesia A difficult-to-treat form of dyskinesia ~In this form, the involuntary movements are slow or belated onset ~Frequently appears after long-term or high-dose use of anti-psychotic drugs or side effect in children and infants tx for gastrointestinal.
Dyskinesia Mvt disorder ~Diminished voluntary mvts and increase of involuntary mvts, similar to tics or chorea ~Can range from from a slight tremor of the hands to uncontrollable movement ~Discoordination can also occur internally especially with respiration.
Neurological Complications of AIDS Does not directly invade nerve cells but jeopardizes function ~Most common neuro complications: Dementia (Hallmark for this) - causing encephalitis, behavioral changes, and a gradual decline in cognitive function, central nervous system lymphomas.
Muscular Dystrophy (MD) Progressive weakness/degeneration of skeletal muscles that control mvt ~Genetic ~Seen in infancy or child, others not until middle age or later (30+ types) but most common types affect boys ~Caused by lack of dystrophin (protein for muscle integrity).
Reye's Syndrome (RS) Primarily children's disease ~Affects all organs but most harmful to brain and the liver causing acute increase of pressure in brain and often, massive accumulations of fat in liver and other organs ~Commonly occurs during recovery from viral infection.
Sturge-Weber Syndrome Port-wine stain at birth on forehead, upper eyelid ~Color from light pink to deep purple ~Caused by overabundance of capillaries around trigeminal nerve ~Abnormal blood vessels, loss of nerve cells, calcification tissue on same side of brain as birthmark.
Café Au Lait Spots (Giraffe Spots) Light-brown birthmarks ~Six+ greater than 5 mm in diameter before puberty, or greater than 15 mm after puberty, is a diagnostic feature of neurofibromatosis type I, but other features are required to diagnose NF-1 ~Without underlying disease, benign.
Neurofibromatosis Type I (NF1) (Von Recklinghausen Disease) Prominent café-au-lait spots, nerve tumors that may or may not be close to skin, optical tumors and other CNS tumors, certain bony abnormalities, some learning deficits, macrocephaly, increased risk of certain cancers. Usually noticed during childhood.
Encephalopathy Abnormal state of brain from any disease of the brain that alters function or structure ~Does not refer to single disease, but a syndrome of global brain dysfunction ~Caused by infection, metabolic, tumor, pressure, etc. ~Hallmark is altered mental state.
Cerebral Hypoxia - Anoxia Decrease of oxygen supply to the brain even though there is adequate blood flow ~Drowning, strangling, choking, suffocation, cardiac arrest, head trauma, carbon monoxide poisoning, and complications of general anesthesia can create this condition.
Aphasia Caused by damage to portions of brain used in language ~Signs: difficulty expressing oneself when speaking, trouble understanding speech, and difficulty with reading and writing ~Not disease, but symptom of brain damage (stroke, tumor, injury, dementia).
Apraxia (Called "Dyspraxia" if Mild) Loss of ability to execute skilled movements and gestures, despite the desire and ability ~Results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain.
Clonic Phase of TC - Clonus Rapidly alternating contraction or repeated jerking ~Mvts cannot be stopped by restraining ~Tongue often suffers bruising sustained by strong jaw contractions ~Eyes roll back or close ~Incontinence is seen in some cases.
Tonic Phase of TC - Tonia Quickly lose consciousness ~Skeletal muscles suddenly tense, often causing extremities to be pulled towards the body or rigidly pushed away, which will cause the pt to fall if standing ~Usually shortest part of sz lasting a few seconds. ~Vocalization.
Atrophy Partial or complete wasting away of a part of the body ~Causes: mutations, poor nourishment, poor circulation, hormone, loss of nerve supply, disuse or lack of exercise or disease intrinsic to the tissue itself.
Dystonia Neurological movement disorder, in which muscle contractions cause twisting and repetitive movements or abnormal postures ~May be hereditary, birth-related, physical trauma, infection, poisoning, reaction to drugs, particularly neuroleptics.
Pervasive Development Disorder (PDD) Includes Autism, Asperger's, Rett's, Disintergrative, or NOS (Not Otherwise Specified).
Fetal Alcohol Syndrome (FAS) Symptoms: poor growth in the womb and after birth, decreased muscle tone, poor coordination, narrow, small eyes with large epicanthal folds, small head, small upper jaw, smooth and thin upper lip, heart defects, delayed development.
Landau–Kleffner Syndrome (LKS) A rare childhood epilepsy ~Sudden or gradual aphasia and always abnormal EEG ~Affects Broca's and Wernicke's area ~Usually occurs between ages of 3 and 7 years ~Typically develop normally, but then lose their language skills (expressive & understanding).
Anencephaly Cephalic (head) end of the neural tube fails to close resulting in the absence of a major portion of the brain, skull, and scalp ~Babies are born without forebrain (responsible for cognition). ~Most don't survive birth.
Neurofibromatosis Type 2 (NF2) “Central NF” Tumors of the nervous system (particularly schwannomas) with few skin or non-nervous system related abnormalities. It is generally noticed during young adulthood, most commonly with hearing loss. The average age of symptom onset in patients is about 20.
Stroke A medical emergency. This happen when blood flow to your brain stops. Within minutes, brain cells begin to die.
Ischemic Stroke Caused by a blood clot that blocks or plugs a blood vessel in the brain.
Hemorrhagic Stroke Caused by a blood vessel that breaks and bleeds into the brain.
Transient Ischemic Attacks (TIAs) or "Mini-Strokes" Occurs when the blood supply to the brain is briefly interrupted.
Ataxia Balance - failure of gross coordination and muscle control in the arms, legs, or trunk that result in movement disorders.
Lesion A wound or injury usually circumscribed pathologic change in a tissue or organ.
Amnesia Pathologic loss or lack of memory.
Retrograde Loss of memory for events immediately prior to a specific loss of consciousness, as in concussion.
Contra Coup Injury produced at a site by a blow on the opposite side of the part or on a remote part.
Vertigo Loosely: dizziness, giddiness. Strictly: a sensation of rotation or whirling motion, either of oneself (subjective) or of external objects (objective).
What illnesses are considered dementias? Alzheimer, CJD, Pick's Disease, Huntington's Chorea, Parkinson's Disease, HIV, Viral Encephalitis, Normal Pressure Hydrocephalus, B12, Folate, Thymine deficiency, Hepatic and Thyroid disease, Cushings Syndrome, MS, Punch Drunk Syndrome, some tumors.
What types of stroke are there? Ischemic, Edema, Hemorrhagic, Subdural Hematoma, TIA.
What illnesses are considered metabolic disorders? Addison’s Disease, Phenylketonuria (PKU), Wilson's Disease, Hyper-Hypoglycemia, Cystic Fibrosis, Hepatic Encephalitis.
Addison’s Disease Adrenal glands on the kidneys fail to produce sufficient amount of cortisol and aldosterone. Symptoms: Skin darkening, low bp, & sugar, weight loss, muscle weakness, fatigue, nausea, muscle pain. Gradual. Hormone replacement therapy required.
Phenylketonuria (PKU) Genetic. Inability of liver to break down amino acid phenylalanine. Can occur in children and infants. No symptoms at birth. Gradual build up of phenylalanine leads to symptoms of sz, mental impairment, stunted growth, small head size, behavioral, etc.
Wilson's Disease (Hepatolenticular Degeneration) Autosomal recessive genetic disorder which copper accumulates in tissues; manifests as neuro or psych symptoms and liver disease. Tx w/ meds that reduces copper absorption or removes the excess copper, but occasionally a liver transplant is required.
Cystic Fibrosis Autosomal recessive genetic disorder. Affects mostly lungs but also pancreas, liver, intestine. Abnormal transport of chloride and sodium across an epithelium, leads to thick, viscous secretions. Name refers to scarring and cyst formation in the pancreas.
Pick's Disease (due to "Pick bodies") A rare hereditary neurodegenerative disease. Causes progressive destruction of nerve cells in brain. Symptoms include loss of speech (aphasia) and dementia. Pts often die within two to ten years. Build-up of tau proteins in neurons.
Hypercalcemia An elevated calcium level in the blood.
Hypothyroidism Iodine deficiency is often cited as the most common cause but can result from the lack of a thyroid gland, associated with increased stress. Severe hypothyroidism in infants can result in cretinism.
Cretinism A condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones (congenital hypothyroidism) usually due to maternal hypothyroidism.
Hyperkinesis A state of overactive restlessness (e.g. hyperactivity), particularly in children. Caused by immaturity of the brain. Stimulation of brain areas can normalize.
ADD A problem with norephedrine inattentiveness, over-activity, impulsivity, or a combination. By releasing norephedrine, it will promote impulse transmission.
Korsakoff's Syndrome (Korsakoff's Dementia, Korsakoff's Psychosis, Amnesic-Confabulatory Syndrome) A neurological disorder caused by a lack of thiamine (vitamin B1) in the brain. Its onset is linked to chronic alcohol abuse and/or severe malnutrition.
Unverricht-Lundborg Disease The most common form of an uncommon group of genetic epilepsy disorders called the progressive myoclonus epilepsies. Onset in children b/t 6 and 16; no known cases older than 18. Most cases originate from the Baltic region of Europe.
Arteriovenous Malformation (AVM) An abnormal connection b/t arteries and veins, bypassing the capillary system. Widely known b/c of its occurrence in the CNS, but can appear anywhere. Most are asymptomatic, can cause intense pain or bleeding or lead to other serious medical problems.
Todd's Postictal Paresis (Todd's Paralysis) Focal weakness in a part of the body after a sz. Typically affects appendages and is localized to either left or right side of the body. It usually subsides completely within 48 hours. Todd's paresis may also affect speech, eye position (gaze), or vision.
Stevens-Johnson's Syndrome (SJS) / Toxic Epidermal Necrolysis (TEN) Two forms of life-threatening skin condition, in which cell death causes the epidermis to separate from the dermis. Thought to be a hypersensitivity complex that affects the skin and the mucous membranes. The majority of cases are idiopathic.
Chiari I Malformation Malformation of the brain. Downward displacement of the cerebellar tonsils through the foramen magnum. Can cause HA, fatigue, muscle weakness in head & face, difficulty swallowing, dizziness, nausea, impaired coordination, and, in severe cases, paralysis.
Chiari II Malformation Occurs when the tissue from the cerebellum, along with the brain stem itself, protrude downward through the base of the skull into the upper spinal canal. Always affects children who have spina bifida. Congenital. Most require tx for hydrocephalus.
Stokes–Adams Syndrome A sudden, transient episode of syncope, occasionally featuring sz. Normal periods of unconsciousness last approximately thirty seconds; if sz are present, they will consist of twitching after 15–20 seconds. Breathing continues normally throughout.
Louis–Bar Syndrome (Ataxia Telangiectasia A-T) A rare, neurodegenerative, inherited disease causing severe disability. Involves poor coordination and small dilated blood vessels (telangiectasia), both of which are hallmarks of the disease.
Von Hippel–Lindau Disease A rare, autosomal dominant genetic condition predisposes/causes pts to benign and malignant tumors. Most commonly found in CNS, retinal, pancreatic, and epididymal (male).
Mesial Temporal Sclerosis A specific pattern of hippocampal neuron cell loss. Atrophy and gliosis is common. Most common pathological abnormality in temporal lobe epilepsy.
Rasmussen's Encephalitis (Chronic Focal Encephalitis CFE) A rare inflammatory neurological disorder, characterized by frequent and severe szs, loss of motor skills and speech, hemiparesis, encephalitis, and dementia. Affects a single hemisphere. Generally occurs in children under the age of 15.
Head Injuries Pathological, Contusions/Lacerations, Anoxia, Intracranial Hematoma, Cerebral Swelling, Tentorial Herniation, Cerebral Ischemia, Infection, Depressed Skull Fracture, Subdural Hematoma.
Craniosynostosis A birth defect that causes one or more sutures on a baby's head to close earlier than normal. Can cause head deformity that can be severe and permanent if it is not corrected. Increased intracranial pressure, seizures, and developmental delay can occur.
Viral Infections Meningitis, Encephalitis, Herpes Simplex Encephalitis, Reye's Syndrome, SSPE, Progressive Rubella Panencephalitis, CJD, Kuru, Myelitis, Poliomyelitis, Epidemiology, Prophylaxis, Shingles, Post Herpetic Neuralgia.
Neurocutaneous Syndromes Affecting the skin and nerves. Sturge-Weber Syndrome, Von Hippel-Lindau Disease, Ataxia Telangiectasia, Tumor, other abnormal growth brain, spine, and peripheral nerve. Progressive.
Congenital Disorders Cephalic Disorders, AVM, Aganesis of Corpus Callosum, Angelman Syndrome, Arnold-Chiari Malformation, CP, Rett Syndrome, SB, Sturge-Weber Syndrome, Syringomyelia.
Syringomyelia A disorder in which a cyst (called syrinx) or cavity forms within the spinal cord. Can expand and elongate over time, destroying the spinal cord. The damage may result in pain, paralysis, weakness, and stiffness in the back, shoulders, and extremities.
Cephalic Disorders Congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Means "head" or "head end of the body."
Colpocephaly A cephalic disorder that refers to the disproportionate enlargement of the occipital horns of the lateral ventricles and is usually diagnosed early after birth due to seizures.
Holoprosencephaly (HPE, once known as Arhinencephaly) A cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy.
Hydranencephaly A condition where the brain cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid.
Porencephaly An extremely rare cephalic disorder involving encephalomalacia. It is a neurological disorder of the CNS characterized with cysts or cavities within the cerebral hemisphere.
Schizencephaly A rare developmental disorder of brain characterized by abnormal continuity of histologic grey matter tissue extending from the ependyma lining of the cerebral ventricles to the pial surface of the cerebral hemisphere surface.
Agenesis of Corpus Callosum (ACC) A rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum.
Major causes of stroke... Hypertension, Diabetes, Increased Cholesterol, Smoking, Heart Disease.
Embolism Smaller particle of thrombosis.
Degenerative Diseases Alzheimer's, Normal Pressure Hydrocephalus, Huntington's, Parkinson's, ALS, MS, Tay-Sachs, PKU, Down's Syndrome, Tuberous Sclerosis, Rett's Syndrome, Neuropathies, Progressive Blindness, Progressive Ataxia (Louis-Bar Syndrome), Friedrich's Ataxia.
Aplastic Anemia A condition where bone marrow does not produce sufficient new cells to replenish blood. The condition, as the name indicates, involves both listed elements.
Aplasia Defective development or congenital absence of an organ or tissue. In the field of hematology, the term refers to incomplete, retarded, or defective development, or cessation of the usual regenerative process.
Vater Syndrome (Vacterl Association) A non-random association of birth defects that occur together (association). Can cross conditions. Each condition can be unique. No specific genetic or chromosome problem has been identified with this, more frequently seen in babies of diabetic mothers.
Hyperekplexia (Rutter's Syndrome) (Literally means "exaggerated surprise.") Characterized by pronounced startle responses to tactile or acoustic stimuli. Hypertonia - attenuated during sleep and less prominent after a year of age. Linked to genetic defects of glycine neurotransmission.
Hyaline Membrane Disease - "Hyaline" comes from the Greek word "Hyalos" meaning "Glass or Transparent." A respiratory disease of the newborn, especially the premature infant, in which a membrane composed of proteins and dead cells lines the alveoli (the tiny air sacs in the lung), making gas exchange difficult or impossible.
Trichotillomania Hair loss from repeated urges to pull or twist the hair until it breaks off. Patients are unable to stop this behavior, even as their hair becomes thinner.
Fatal Familial Insomnia (FFI) A very rare inherited disease of the brain (can develop spontaneously). No known cure, involves progressive worsening insomnia, leads to hallucinations, delirium, and confusion like dementia. Survival span after the onset of symptoms is 18 months.
Punch Drunk Syndrome A condition seen in boxers and alcoholics, caused by repeated cerebral concussions and characterized by weakness in the lower limbs, unsteadiness of gait, slowness of muscular movements, hand tremors, hesitancy of speech, and mental dullness.
Cushing's Syndrome A disorder that occurs when your body is exposed to high levels of the hormone cortisol. It may also occur if you take too much cortisol or other steroid hormones.
La Belle Indifference A naive, inappropriate lack of emotion / concern for the perceptions by others of one's disability, usually seen in persons with conversion disorder (neurological physical disabilities).
Torticollis A twisted neck in which the head is tipped to one side, while the chin is turned to the other.
Created by: kmburg5840
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