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Neuropath Hereditary Neuropathies pt 1

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taylormaloney's version from 2017-02-20 04:44

Section 1

Question Answer
Define Peripheral NeuropathiesA wide range of disorders in which the peripheral nerves have been damaged.
What type of Nerve is affected?Can be sensory, motor, or both.
What are the types of P. Neuropathy?Mono and Poly.
What is a Mononeuropathy?A focal neuropathy, involving one nerve. (CN or SN), not affecting in a symmetrical fashion.
What is a Polyneuropathy?More than one nerve affected. Often affecting same areas on opposite side of body. Symmetrical distal weakness/distal sensory loss. HyporeflexiA.
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Section 2

Question Answer
What causes peripheral neuropathies?Diabetes, Shingles, B12 Deficiency, Alcoholism, Autoimmune Disoders, Lyme Disease, Syphilis, HIV, Toxins, Hereditary disorders.
What are the common symptoms of peripheral neuropathies?Numbness (esp in limbs), stabbing pain, burning pain, sensitivity to touch.
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Section 3

Question Answer
What is Charcot-Marie-Tooth Disease?The most common inherited neurological disorder, also known as hereditary motor/sensory neuropathy, or peroneal muscular atrophy.
What is the prevalence of CMT?1/2500. (common)
What are the characteristics of CMT?Initially involving the fibular nerve, affecting muscles of the lower leg and foot. Later progressing to muscles of upper limb. Distal Limb muscle wasting and weakness, distal sensory loss, skeletal deformities, and abnormalities in deep tendon reflexes.
What is the etiology?Genetically heterogenous neuropathy, chromosomal abnormalities.
How is it inherited as?Autosomal Dominant, Autosomal recessive, X chromosome linked pattern. (Men)
What are the two major types of pathophysiology>CMT-1 + CMT-2
Define CMT-1Demyelination of the peripheral nerves due to abnormal myelin production- damage to nerves, thickened and palpable myelin sheaths.
Define CMT-2Axonal death and degeneration without a primary defect in myelin
What are the Beginning S+S of CMT?Slowly progressing distal symmetric muscle weakness and atrophy. Commonly pes cavus (high arch) and Hammer Toes/Foot Drop. Diminished DTRs.
What is the specific name for the distal symmetrical muscle weakness/atrophy?Champagne Bottle Legs.
What are the Progressive symptoms of CMT?Weakness and wasting of intrinsic muscles of hands. and progressive wasting of forearm muscles.
What are the specific sensory S+S of CMT1?Loss of proprioception in feet/ankes. and diminished cutaneous sensation in foot and lower legs.
What are the specific sensory S+S in CMT2Sensory loss is limited, potential tingle/burning in feet and legs, with impaired proprioception.
What are the Motor Symptoms of CMTWeakness in legs/ankles/feet, loss of muscle bulk in LL, High foot arches, curled toes, decreased ability to run/lift foot at ankle. Abnormal gait, and frequent falls/tripping.
How is CMT diagnosed?Nerve biopsy and nerve conduction studies.
How is it treated?Symptomatic treatment to minimize deformity and maximize function. (Massage, antiinflammatories, orthotic devices)
What is the life expectancy?Usually normal life expectancy due to rarity of phrenic/cranial N involvement.
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Section 4

Question Answer
What are the three potential causes of Metabolic Neuropathies?Metabolic Diseases, Nutritional Disease, and Alcoholism.
What type of Metabolic Diseases can cause Peripheral Neuropathies?Inborn errors of metabolism (Taysachs, Niemann-Pick, Phenylketonuria) and Diabetes.
What type of Nutritional diseases can cause peripheral neuropathies?Vit B1/B12 Deficiencies, Wernicke-Korsakoff Syndrome, Nicotinic Acid Deficiency, Dermatitis, Diarrhea, Delirium.
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Section 5

Question Answer
Diabetes DefinitionA group of metabolic diseases characterized by hyperglycemia.
DM is caused byDeficiency or diminished effectiveness of endogenous insulin.
Types of DMType 1- Body's failure to produce, Type 2- Body's resistance to insulin, and Gestational- Pregnancy causing high glucose levels.
What are the Potential complications of DM?Acute- diabetic ketoacidosis. Chronic- Neuropathy, CV Disease, Nephropathy, and Retinopathy.
Diabetic Neuropathy ?Most common complication of DM. (50% both Types experience it). Greatly impairs the quality of life of those affected.
What are the RFs of Diabetic Neuropathy?Poor control of diabetes. Advanced age, hypertension Long duration DM, Dyslipidemia, Smoking, Heavy Alcohol Intake.
What is the prevalence of Diabetic Neuropathy in Type 1 VS Type 2 ?Type 1= 54% Type 2= 30%
Etiology of Diabetic NeuropathyChronic metabolic disturbances affect nerve + schwann cells. High levels of sorbitol/fructose and the deficiencies of sodium/potassium/ATP= alter function of peripheral nerves. Abnormalities in microcirculation cause endothelial capillary changes leading to nerve ischemia. Excess sorbitol causes damage to schwann cells
In the case of diabetic neuropathy, what does the hyperglycemia cause damage to?Myelinated and unmyelinated axons.
Diabetic Neuropathy- characteristics.First nerve fibres affected are the distal PNS nerves. Occurring in an ascending pattern. Pain and numbness usually symmetrical in both feet. Later affecting the fingers/hands/arms. Worse at night.
What are the Sensory S+S of diabetic neuropathy?Symmetrical and distal to proximal. (Can go against this pattern), Numbness/Tingling, reduced sensory, possibly tingling/burning, sharp pains and cramps, Increased sensitivity to touch in some.
What are the Motor S+S of Diabetic Neuropathy?Muscle weakness, loss of reflexes, loss of balance/coordination.
What are some of the more serious complications?Ulcers, infections, gangrene, deformities, bone/joint pain.
What are some potential CVS/Sympathetic disturbances seen?Postural hypotension, diarrhea/constipation, urinary retention, heat intolerance, heavy sweating in upper body.
What is rapidly reversible neuropathy?Also called hyperglycemic neuropathy- seen in those with poorly controlled DM or newly diagnosed. reversible nerve conduction abnormalities, distally symmetrical sensory changes. Usually disappearing after blood sugar is normalized.
What is acute sensory neuropathy?Rapid onset, severe burning pain, deep aching, sudden sharp 'electric' pain,
What is Chronic Sensory Neuropathy?Also called diabetic polyneuropathy- Most common type of DN- insidious onset. Small nerve fibre damage causing burning pain, paresthesis, and stocking pattern. Larger nerve fibre damage causing painless paresthesis, impaired proprioception, impaired touch/pressure sensation, loss of ankle DTRs. Motor weakness- generally mild causing wasting of small muscles in advanced cases.
How is DN treated?Glucose control= primary goal. Anti-diabetic medications. Casting and therapeutic footwear to prevent charcot join. Ulceration care, massage therapy.
What percentage of non-traumatic amputations are caused by DN?50%
Autonomic Neuropathy entails an increased risk of..death.
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Section 6

Question Answer
What is alcoholic neuropathy?Damage to the nerves caused b excessive consumption of alcohol.
What is the cause of AN?Idiopathic.- likely related to both neurtoxic effect on the nerve and the effect of poor nutrition (Vit B1 deficiency associated with alcoholism)
In severe cases, what may be affected?Autonomic Nerves.
What does AN generally affect?Both sensory and motor nerve, considered a polyneuropathy. Typically seen in distal regions of lower limbs. Motor functions generally affected AFTER sensory function.
What are the sensory S+Ss?Paresthesia, loss of proprioception, and diminished reflexes.
What are the motor S+S?Muscle weakness, muscle cramps/aches, and atrophy.
How is AN treated?Nutritional changes, psychological treatment for addiction, physiotherapy, massage, pain killers.
What factor is most important when considering the prognosis of AN?The function of Liver and Immune System.
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