Musculoskeletal: 7. Leech : Diseases Of The Muscles

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truenuff

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what is Denervation Atrophy

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Denervation atrophy refers to atrophy caused by any process that affects the anterior horn cell or its processes in the peripheral nervous system

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Spinal muscular atrophy (SMA), please describe and include affected locus

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refers to a group of syngeneic autosomal recessive motor neuron diseases beginning in childhood or adolescence, with a locus on chromosome 5

it is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy (wasting away) and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness

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please describe Muscular Dystrophy

**

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The muscular dystrophies are a heterogeneous group of inherited disorders, often beginning in childhood and characterized clinically by progressive muscular weakness and wasting

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what is the most common muscular dystrophy?

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Duchenne muscular dystrophy (x-linked)

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Disease progresses relentlessly until death by the early twenties
Begins in the pelvic girdle muscles, then extends to the shoulder girdle
Heart and cognitive impairment appears to be a component of the disease


this is seen in what?

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X-linked muscular dystrophy

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what gene leads to problems such as becker's and Duchenne muscular dystrophies?

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Gene is at Xp21 region and encodes a 427-kD protein

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in X-linked muscular dystrophy muscle biopsy specimens have diminished amounts of ..

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dystrophin

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Limb Girdle Muscular Dystrophies
affect what? what type of inheritance do they exhibit?

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the proximal musculature of the trunk and limbs with either an autosomal dominant (LGMD 1) or a recessive (LGMD 2) inheritance

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Myotonic Dystrophy

presentation? genetics?

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presents with abnormalities in gait 2° weakness of foot dorsiflexor; weakness progresses with atrophy of muscles of the face, and ptosis ensues



autosomal dominant disease that tends to increase in severity and appear at a younger age in succeeding generations

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Malignant hyperpyrexia (malignant hyperthermia)

genetics? type of myopathy? onset caused by?
**TEST

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autosomal dominant
Ion Channel Myopathy

syndrome of a dramatic hypermetabolic state (tachycardia, tachypnea, muscle spasms, and later hyperpyrexia) triggered by the induction of anesthesia, ordinarily halogenated inhaled agents, and succinylcholine

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Myopathies are often associated with disorders of ...?

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glycogen synthesis and degradation and can also result from disorders of mitochondrial function

biochemical disorders

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: acute or chronic, proximal muscle weakness sometimes presents before clinical thyroid dysfunction. In thyrotoxic periodic paralysis, there is weakness and hypokalemia

this describes?

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Thyrotoxic myopathy

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what toxin can produce an acute toxic syndrome of rhabdomyolysis with accompanying myoglobinuria; it may lead to renal failure

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Alcohol

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an autoimmune disease characterized clinically be easy fatigability, ptosis, and diplopia resulting from an immune-mediated injury, which causes a decrease in the number of muscle acetylcholine receptors (AChRs)

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Myasthenia gravis

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Antibodies to AChR are present in the serum of 85 to 90% of patients. These antibodies accelerate degradation of the AChR. Plasmapheresis can be effective treatment

what is this

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Myasthenia gravis

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this disease is a paraneoplastic disorder of the neuromuscular junction, autoimmune disease that attacks presynaptic Ca2+ channels, most commonly with small cell carcinoma of the lung (60% of cases);

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Lambert-Eaton myasthenic syndrome

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what is a Rhabdomyosarcoma

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Tumors of Skeletal Muscle

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where is the most common spot to see a Leiomyoma? what is it?

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uterus

Benign smooth muscle tumors

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know Duchanne and Beckers and Lambert Eaton associated with lung cancer

MG

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this is what he said to know (LEECH lecture 7)