Term
|
Definition
|
|
Term
|
Definition
| Ankylosing Spondylitis, Reactive Arthritis |
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Term
|
Definition
|
|
Term
|
Definition
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|
Term
| Infiltration by inflammatory cells (CD4, T+ B cells),release of cytokines IL-1 & TNF-alpha, increased vascularity, aggregation of fibrin - formation of pannus |
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Definition
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|
Term
| Osteoclastic activity in underlying bone driven by RANKL from T-cells and synovial fibroblasts |
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Definition
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Term
| AM stiffness, soft tissue swelling of 3+ jts, PIP, MCP or wrist involvement - symmetric |
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Definition
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Term
|
Definition
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|
Term
|
Definition
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|
Term
| Ulnar Deviation of Fingers |
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Definition
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|
Term
| Arthritis, uveitis in a child under 16 |
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Definition
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|
Term
| Triad of: Arthritis, urethritis/ nongonococcal cervicitis, conjunctivitis |
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Definition
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|
Term
| Asymmetrical sterile arthritis following a GU or GI infection |
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Definition
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|
Term
| Symmetric arthritis of the LEs in a pt. with Chron's ds |
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Definition
| Arthritis of Inflammatory Bowel Ds |
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|
Term
| AM stiffness in the axial spine, B/L SI involvement |
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Definition
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|
Term
| Loss of flexibility in the spine, loss of chest expansion |
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Definition
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|
Term
|
Definition
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|
Term
| Asymmetric arthritis of the DIP joints in a pt with nail pitting |
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Definition
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|
Term
| Pencil-in-cup appearance of phalanges on X-ray |
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Definition
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|
Term
| RA, splenomegaly, abnormally low WBC count (granulocytopenia) |
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Definition
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|
Term
| Lymphocyte infiltration of exocrine glands (esp. salivary and lacrimal glands) |
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Definition
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|
Term
| Dry eyes, Dry Mouth, B/L Parotid gland swelling |
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Definition
| Sjogren's Syndrome (Sicca Syndrome) |
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Term
|
Definition
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|
Term
| Rose Bengal Score or Lissamine Green Dye Test |
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Definition
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|
Term
| Most common cause of Non-gonococcal bacterial arthritis |
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Definition
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|
Term
| Acute onset of pain and swelling in the knee, fever in a 60y/o patient |
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Definition
| Non-gonococcal Bacterial Arthritis |
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|
Term
| Fever, chills, rash and acute onset of monoarthritis of the knee in a 27 y/o sexually active female |
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Definition
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|
Term
| Insidious, progressive jt/ back pain in a patient with a positive PPD |
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Definition
| Tuberculous Arthritis (Pott's Ds when spinal involvement) |
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Term
| Acute onset of a symmetrical small joint arthralgia that is self-limiting |
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Definition
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|
Term
| Most common causes of viral arthritis |
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Definition
| Parvovirus B19, Rubella (including following a rubella vaccine), Hep B or C |
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|
Term
|
Definition
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|
Term
| Why distal joints are more affected by gout than proximal ones |
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Definition
| Temperature - distal jts have a lower temp, so the MSU crystals precipitate out easier there |
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|
Term
|
Definition
| MSU crystals are chemotaxic to leukocytes, cytokines are released, inflammation follows; phagocytosis of crystals leads to cell repture and release of lysosomal enzymes furthering the inflammation(/ redness/ warmth?) |
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|
Term
| Acute onset (hours) of monoarthritis of the first MTP jt - typically at night, accompanied by intense redness, heat and swelling |
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Definition
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|
Term
| Associatd with consumption of red meat and EtOH |
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Definition
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|
Term
| Negatively birefringent under polarizing light microscope |
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Definition
|
|
Term
| Another name for pseudogout |
|
Definition
| CPPD arthritis (calcium pyrophosphate dihydrate) |
|
|
Term
| At what age do S/S of MSU gout start? |
|
Definition
| Around age 18 in men, after menopause in women |
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|
Term
| Associated with ANKH gene |
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Definition
| Hereditary pseudogout; ANKH is a transmembrane inorganic pyrophosphate transport channel |
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|
Term
| Pathophysiology of pseudogout |
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Definition
| Crystals form in the articular matrix, menisci and intervertebral joint; seeding of the jt space induces chemokines, initiating a neutriphil invasion; free-radicals and cytokines are released and macrophages move into the joint with associated fibrosis |
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|
Term
|
Definition
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|
Term
| Calcium phosphate crystals, often deposited on vessels |
|
Definition
|
|
Term
| Accumulation of iron in body tissues (esp. liver and pancreas) accompanied by osteoarthritis-like sxs |
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Definition
|
|
Term
|
Definition
| The hemochromatosis gene, located on the short arm of chr.6, which encodes a molecule regulating iron absorption across the intestinal epithelium |
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|
Term
|
Definition
| Osteophytes in the DIP jts in patients with OA |
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|
Term
|
Definition
| Osteophytes in the PIP jts of patients with OA |
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|
Term
|
Definition
| Early changes involve a decrease in proteoglycans and an increase in water content with weakening of the collagen; IL1, TNF alpha and NO levels increase in the cartilage; chondrocyte apoptosis of the articular cartilage; eventually - thinning of the cartilage, subchondral sclerosis and osteophyte formation |
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|
Term
| Deep, achy joint pain that worsens with use; jt enlargement; involvement of the DIP + PIP jts with MCP sparing |
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Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Alignment of bones, Bone integrity, Cartilage/ jt space, Deformities, Erosions, Soft Tissue involvement |
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|
Term
|
Definition
| Alignment of bones, Bone integrity, Cartilage/ jt space, Deformities, Erosions, Soft Tissue involvement |
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|
Term
| Deep, achy pain referred to the paraspinal region that doesn't radiate and worsens on extension of the spine |
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Definition
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|
Term
| Gold Standard in Dx of Facet Jt Syndrome |
|
Definition
| Diagnostic Nerve Block - blocking the n. to the joint with anesthetic and then blocking the joint iteself with anesthetic to determine which causes the pain to go away |
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|
Term
| Fragments of bone and cartilage debris released into the joints with chronic synovitis |
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Definition
| Pathognomonic for Neuropathic (Charcot) Joints |
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|
Term
| Severely degenerated joints secondary to loss of innervation to the joint |
|
Definition
| Neuropathic (Charcot) Joints |
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|
Term
| Ganglion v. Synovial Cyst |
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Definition
| Ganglion cysts are typically small and located near a joint; synovial cysts represent herniated synovial membrane from a joint |
|
|
Term
| A cyst arising from a cystic or myxoid degeneration of CT; the cystic cavity lacks a true lining of cells |
|
Definition
|
|
Term
|
Definition
| A ganglion cyst on the dorsum of the wrist |
|
|
Term
| A cyst arising from synovial lining that has herniated thru the jt capsule |
|
Definition
|
|
Term
|
Definition
| A synovial cyst that develops in the popliteal space, often in the setting of an arthritis |
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|
Term
| Benign neoplasms that develop in the synovial linings of jts, tendon sheaths, and bursae |
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Definition
|
|
Term
| Proliferation of synovial lining; contains chromosomal abnormalities |
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Definition
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|
Term
| Patient presents wtih a slow-growing painless mass on the flexor surface of the middle finger |
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Definition
| Giant cell Tumor of the Tendon Sheath (AKA: Localized nodular tenosynovitis) - the most common soft tissue tumor of the hand |
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|
Term
| Pain, joint locking and recurrent swelling of the knee; a tangled mat of red-brown folds is seen in the synovium |
|
Definition
| Pigmented Villonodular Synovitis |
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|
Term
| A dysraphism involving complete destruction of the SC |
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Definition
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|
Term
| Adduction of the forefoot (causing the lateral border of the foot to appear convex) |
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Definition
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|
Term
|
Definition
| Metatarsus adductus(most common cause in kids <18mos), internal tibial torsion (most common cause in kids 18mos-3 yrs), internal femoral torsion (most common cuase in kids >3yrs) |
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|
Term
| Cause of ~10% of scoliosis cases |
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Definition
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|
Term
| Scoliosis appearing during or right after a growth spurt (ex: ~10 y/o) |
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Definition
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|
Term
| Causes of Congenital Scoliosis |
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Definition
| Partial or complete failure in vertebral formation; partial or complete failure in body segment formation |
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|
Term
| B/L low/ absent longitudinal arch; arch flattens when weight bearing and foot becomes pronated |
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Definition
| Hypermobile Pes Planus (rigid flat feet indicates a more concerning pathology) |
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|
Term
| Autosomal dominant disorder of skeletal development with deficient/ imperfect ossification of bones such as the clavicle, cranium and pelvis |
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Definition
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|
Term
|
Definition
| Osteoblast specific transcription factor 2/ core binding factor activity 1 - two genes associated with Cleidocranial dysotsis; located on Chr. 6p21 |
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|
Term
| Cause of Cleidocranial Dystosis |
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Definition
| A mutation in the transcription factor CBFA1, which controls osteoblast differentiation |
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|
Term
| 4 common UE congenital Limb Abnormalities |
|
Definition
| 1)hypoplasia or absence of the thumb; 2)radial deficiency; 3) ulnar deficiency; 4)transverse deficiency of the forearem (complete absence fo the hand and wrist can occur) |
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|
Term
| 3 common LE congenital abnormalities |
|
Definition
| 1)fibular deficiency; 2)tibial deficiency; 3)longitudinal deficiency of the femur |
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|
Term
| Abnormally high-positioned scapula |
|
Definition
| Sprengel Deformity- congenital, may see webbing of skin btwn neck and scap.; may be assoc. with a Klippel-Feil Abnormality (fusion of any 2 cervical vert.) |
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|
Term
| Capital femoral epiphysis |
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Definition
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|
Term
| Obese teenage male presents with knee pain |
|
Definition
| Slipped Capital Femoral Epiphysis (SCFE) |
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|
Term
|
Definition
|
|
Term
| Widening of the femoral epiphysis followed by slippage (femoral head stays in the acetabulum, femoral neck roates -usu anteriorly) |
|
Definition
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|
Term
| Muscle loss and wasting, thought to be caused by death of the ventral horn motor neurons |
|
Definition
|
|
Term
| Congenital contractures and rigid jt deformities of multiple jts (LE>UE) |
|
Definition
|
|
Term
| Degeneration of the anterior longitudinal ligament followed by ossification of the ALL; spans at least 4 segments |
|
Definition
| Diffuse Idiopathic Skeletal Hyperotosis (DISH) |
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|
Term
| Most common cause of Pyogenic Osteomyelitis |
|
Definition
| S.aureus (followed by H.influenza and GBS) |
|
|
Term
| Small interosseous abscesses involving the cortex of bone that are walled off by reactive bone |
|
Definition
| Brodie Abscesses - seen in pyogenic osteomyelitis |
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|
Term
| Fever, malaise, chills, unrelenting pain, immobilization/ protection of the limb (ex -pt won't bear weight) |
|
Definition
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|
Term
| Newborn with more folds on one leg than the other |
|
Definition
|
|
Term
| Tests for Congental Hip Dysplasia |
|
Definition
| Barlow Test, Ortolani Test, Galeazzi Sign |
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|
Term
|
Definition
| A Test for hip instability with dislocation occurring with flexion, adduction and a posterior force/ push |
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|
Term
|
Definition
| A test for hip dysplasia involving abduction and anterior pressure/ pull; "click/ clunk" |
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|
Term
|
Definition
| A test for hip dysplasia invovling flexing the infant's knees while they're supine so that the feet are flat on the table; looking to see if the knees are level - unlevel knees = positive test |
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|
Term
| Patient has a "W" style seated posture |
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Definition
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|
Term
| Foot exhibits: plantar flexion (equines) of the ankle, adduction (varus) of the heel/ hindfoot, high arch (cavus), and adduction of the forefoot |
|
Definition
| Talipes Equinovarum (AKA Club Foot) |
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|
Term
|
Definition
|
|
Term
|
Definition
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|
Term
| Results from a lack of Vit. D |
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Definition
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|
Term
| Pathophysiology of Rickets |
|
Definition
| Vit. D deficiency results in hypocalcemia and a secondary hyperparathyroidism; the hyperparathyroidism leads to hypophosphatemia, which affects the growth plate (there's an enlargement of the hypertrophic zone of cartilage in response to the hypophosphatemia); newly formed bone is also poorly mineralized |
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|
Term
| Muscular hypotonia, soft/ thin skull, knobby deformities of jts and ribs |
|
Definition
|
|
Term
|
Definition
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|
Term
|
Definition
| Sternal deformity seen in Rickets/ Osteomalacia |
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|
Term
| Lab Tests for Osteomalacia/ Rickets |
|
Definition
| Serum vit. D, PTH, Calcium, phosphorous and alk.phos. levels |
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|
Term
| Overactive osteoclastic bone resorption with resultant new bone formation |
|
Definition
|
|
Term
|
Definition
| Receptor Activator of Nuclear Factor-KB; chr. 18; a factor critical in controlling osteoclast function - assoc. with Paget's Ds |
|
|
Term
| Elevated alk.phos level, pain, facial deformities and fractures |
|
Definition
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|
Term
| An autosomal dominant disorder that manifests with fragility of the skeletal system due to structural or quantitative defects in collagen type I |
|
Definition
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|
Term
| Fragile bones, blue sclera, and early deafness |
|
Definition
|
|
Term
|
Definition
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|
Term
| Slow-growing benign tumor located on the subperiosteal or endosteal surfaces of skull or facial bones |
|
Definition
|
|
Term
| Small (<2cm) benign tumors in the appendicular skeleton; night-time pain that is relieved by ASA |
|
Definition
|
|
Term
| Cause of the pain in Osteoid Osteomas/ the reason the pain is relieved by ASA |
|
Definition
|
|
Term
| Benign bone tumors that produce a dull pain unresponsive to ASA |
|
Definition
|
|
Term
| Mushroom-shaped bony cartilage-capped growth |
|
Definition
|
|
Term
| Benign tumor of interosseous hyaline cartilage |
|
Definition
|
|
Term
| Benign, aggressive tumor containing multinucleated giant cells that look like osteoclasts |
|
Definition
| Giant Cell Tumor - typically involves the knee |
|
|
Term
| A mesenchymal tumor involving the overproduction of bone matrix |
|
Definition
|
|
Term
| Painful, aggressively enlargin masses, soft-tissue swelling, Codman's triangle, pulmonary metastases |
|
Definition
|
|
Term
| Painful, progressively enlarging masses in the central portion of the skeleton including pelvis, shoulders and ribs |
|
Definition
|
|
Term
| Enlarged, painful masses in the metaphyses of long bones and plevic flat bones; can occur in bones that were previously irradiated |
|
Definition
| Fibrosarcomas + Malignant fibrous histocytomas |
|
|
Term
| 5 Most common primary origins of neoplastic metastasis to bone |
|
Definition
| Lung, Breast, Thyroid, Kidney, Prostate |
|
|
Term
| Common sites of metastasis to bone |
|
Definition
| Axial skeleton and to a lesser extent the proximal appendicular bones |
|
|
Term
| Bony tumor seen in kids that presents with painful, enlarging masses and local tenderness and swelling accompanied by fever, elevated ESR, anemia and leukocytosis (elevated WBC count) |
|
Definition
| Ewing Sarcoma/ Primitive Neuroectodermal Tumors (PNET) |
|
|
Term
| Avascular necrosis of the femoral head in kids <15 years old |
|
Definition
| Legg-Calve-Perthes Disease |
|
|
Term
| Grade I Legg-Calve-Perthes Ds |
|
Definition
| Less than 1/3 of epiphysis involved, cystic appearance, epiphyseal height maintained, viable tongue of epiphysis |
|
|
Term
| Grade II Legg-Calve-Perthes Ds |
|
Definition
| Rarified bone, avascular segment, Gage's Sign (a small osteoporotic region on radiographs that forms a transradiant V on the lateral side of the epiphysis), Metaphyseal rarefaction |
|
|
Term
| Grade III Legg-Calve-Perthes Ds |
|
Definition
| Most of the epiphysis is avascular, viable bone posterior and anterior, metaphyseal changes |
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|
Term
| Grade IV Legg-Calve-Perthes Ds |
|
Definition
| Total epiphyseal involvement, diffuse metaphyseal changes, no viable bone posterior, epiphyseal consolidation |
|
|
Term
| Degeneration/ aseptic necrosis of a portion of bone or growth center followed by reossificaion |
|
Definition
| Osteochondritis dissicans - commonly involves the femoral condyle in the knee |
|
|
Term
| Gradual onset of vague pain in jt, catching/ locking of the joint, possibly jt effusion |
|
Definition
| Osteochondritis dissicans |
|
|
Term
| Swelling, tenderness and increased prominence of the tibial tubercle |
|
Definition
|
|
Term
| Vascular infarction leading to the cellular death of bone tissue |
|
Definition
|
|
Term
|
Definition
| Defect in this gene (for type II collagen) is seen in familial cases of osteonecrosis |
|
|
Term
|
Definition
| The process of new bone laid down on the scaffolding of old dead bone in osteonecrosis |
|
|
Term
| A young, female patient presents with a butterfly rash, fever, jt pain, pleuritic pain and photosensitivity |
|
Definition
| SLE - may also have oral ulcers, pericarditis, proteinuria, seizures/ psychosis, hemolytic anemia, leukopenia, etc. |
|
|
Term
| Test for ANA, dsDNA, Smith, SSA and SSB antibodies |
|
Definition
|
|
Term
| Acute onset of tender, nodular, erythematous eruption usually found on the extensor aspects of the LEs |
|
Definition
| Erythema nodosum - associated with sarcoidosis |
|
|
Term
| Pathogenesis of Scleroderma |
|
Definition
| Abnormal immune response from CD4 T cells and TH2 cells - abnl secretion of growth factors & cytokines, t-cell mediated fibrogenesis and vascular injury, abnl humeral response |
|
|
Term
| Wide-spread skin thickening and rapid progression to fibrosis of visceral organs (GI, heart, kidneys, skeletal muscle and lungs) |
|
Definition
|
|
Term
|
Definition
| Calcinosis, Raynaud's Synd., Esophageal dysmotility, Sclerodactyly, Telangectasisa --seen in limited scleroderma |
|
|
Term
| Skin thickening confined to fingers, forearms and face, accompanied by CREST Syndrome |
|
Definition
|
|
Term
| ANA, anticentromere antibodies |
|
Definition
| Seen in patients with Limited Scleroderma |
|
|
Term
|
Definition
| Seen in patients with Diffuse Scleroderma |
|
|
Term
| Generalized mm. pain increased with exertion, fatigue, perception of swollen jt not present on PE |
|
Definition
|
|
Term
| Increase tryptophan containing foods |
|
Definition
| May help prevent fibromyalgia flares |
|
|
Term
| Pain/ stiffness in the neck, shoulders and pelvic region, low-grade fever and weight loss, malaise, arthralgias & myalgias |
|
Definition
|
|
Term
| ESR > 50 mm/h with normochromic, normocytic anemia |
|
Definition
| Seen in 50% of polymyalgia rheumatica patients |
|
|
Term
| Often associated with Giant Cell Arteritis |
|
Definition
|
|
Term
| Often associated with Polymyalgia rheumatica |
|
Definition
|
|
Term
| Treatment for sarcoidosis |
|
Definition
| First line- glucocorticoids; second line- methotrexate (MTX) |
|
|
Term
| Insidious onset of shortness of breath, cough, chest pain and hemoptysis; may also see constitutional s/s, eye involvement, splenomegaly & hepatomegaly |
|
Definition
|
|
Term
| Associated with Sarcoidosis |
|
Definition
|
|
Term
|
Definition
| Light chain amyloid - derived from plasma cells and contains immunoglobulin light chains |
|
|
Term
|
Definition
| Amyloid associated protein - secreted by liver |
|
|
Term
|
Definition
| Involves AL and immunocyte dyscrasias |
|
|
Term
|
Definition
| Involves AA; reactive amyloidosis due to chronic disease |
|
|
Term
|
Definition
| Performed on bx specimens to dx amyloidosis |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Pain in elbow with wrist extension |
|
Definition
| Lateral epicondylitis (tennis elbow) |
|
|
Term
| Pain in elbow with wrist flexion |
|
Definition
| Medial epicondylitis (golfer's elbow) |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Pain and tenderness localized to the radial aspect of the wrist, pain with thumb movement |
|
Definition
| Tenosynovitis (DeQuervain's tenosynovitis) |
|
|
Term
| Inflammation of the thin inner synovial lining surrounding the tendons of the adductor policis longus and extensor policis brevis as they pass thru a common sheath at the base of the thumb and distal end of the radius |
|
Definition
| DeQuervain's tenosynovitis |
|
|
Term
| Most common form of systemic vasculitis in adults |
|
Definition
|
|
Term
| Granulomatous inflammation of the media, fragmentation of the interal elastic membrane and mononuclear infiltrate with multinucleated giant cells and langhans cells of medium and large sized arteries (aorta, temporal a., etc.) |
|
Definition
|
|
Term
| Necrotizing vasculitis of arterioles, capillaries and venules (commonly involves the lung and kidney) |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Fever, wt loss, muscle pain, rapidly progressing renal disease, hemoptysis |
|
Definition
|
|
Term
| Necrotizing vasculitis of small and medium sized vessels, typically involves renal and other visceral organs (NO lung involvement) |
|
Definition
| Polyarteritis Nodosa (PAN) |
|
|
Term
| Hypergammaglobulinemia and positive Hep B surface antigens in 30% of patients |
|
Definition
|
|
Term
| Pathogenesis of polyarteritis nodosa |
|
Definition
| PMNs infiltrate all layers of a vessel and perivascular areas, intimal proliferation and degeneration of the vascular wall, fibroid necrosis, luminal compromise, thrombosis and infarction/ hemorrhage of the vessel; healing involves collagen deposition and aneurysmal formation |
|
|
Term
| A widespread granulomatous inflammatory reaction leading to stenosis in the walls of medium and large size vessles (typically involves the aortic arch and its branches) |
|
Definition
|
|
Term
| Disease progresses rapidly at first, then halts after 1-2 years, alowing for long-term survival |
|
Definition
|
|
Term
| A necrotizing vasculitis most commonly affecting the respiratory and renal systems |
|
Definition
|
|
Term
| Triad of acute necrotizing granulomas of the mucosa in the upper and lower respiratory tract, necrotizing granulomatous vasculitis affecting small to medium sized vessels,and focal necrotizing renal disease |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Fever, malaise, weakness, arthralgias, anorexia + wt loss, persistent pneumonia, chronic sinusitis |
|
Definition
|
|
Term
| A small, firm nodule in ther dermis or subcutaneous tissue, typically occurring in mid-adult life |
|
Definition
| Benign Fibrous Histiocytoma |
|
|
Term
| Slowly progressing contracture of the palmar fascia in the hand |
|
Definition
| Dupuytren's contracture - a form of fibromatosis |
|
|
Term
| Rare, aggressive neoplasm of the soft tissue |
|
Definition
|
|
Term
|
Definition
| Lipoma - soft, mobile and painless |
|
|
Term
|
Definition
| Liposarcoma - one of the most common sarcomas of adulthood |
|
|
Term
| An aggressive, malignant tumor that usually arises in the musculature of the proximal extremities or in the mediastinum |
|
Definition
| Malignant fibrous histiocytoma |
|
|
Term
| Fibrotic proliferation and formation of metaplastic bone in skeletal muscle (usually following a trauma) |
|
Definition
|
|
Term
| Patient initially presents with an area of pain and swelling in the muscle, that evolves into a painless mass and may eventually calcify to become a painful mass in the muscle |
|
Definition
|
|
Term
| Patient presents between ages 3 and 5 with delayed motor milestones with progressively worsening loss of strength and Gower's Sign, and joint contractures |
|
Definition
| Duchenne's Muscular Dystrophy |
|
|
Term
| Dx of Duchenne's Muscular Dystrophy |
|
Definition
| Serum CK levels, EMG and a bx (Western blot demonstrating decreased dystrophin) |
|
|
Term
| A less common, later onset and slower progressing form of muscular dystrophy than Duchenne's Muscular Dystrophy |
|
Definition
| Becker Muscular Dystrophy |
|
|
Term
| Most common adult muscular dystrophy |
|
Definition
|
|
Term
| Associated with a trinucleotide CTG repeat expansion on chr. 19 (the DMPK gene)and anticipation |
|
Definition
|
|
Term
| Insidious onset of gait abnormalities in late childhood, sustained muscular contractions, progresses to weakness in the hands and then face, frontal balding, ptosis and "hatchet-face" |
|
Definition
| Classic form (DM1) of Myotonic Dystrophy |
|
|
Term
|
Definition
| Associated with Myotonic Dystrophy - a narrowing of the face due to loss of mass in the masster mm. |
|
|
Term
| Patient has normal or slightly elevated CK levels and EMG changes; bx reveals nuclei positioned centrally in m. fibers |
|
Definition
|
|
Term
| Reason the nucleus is in the center of the m. in Centronuclear Myopathy |
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Definition
| Most likely involves a defect in the cytoskeleton of the m. cells, preventing marginalization of the nucleus |
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Term
| Severe hypotonia and weakness at birth |
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Definition
| Neonatal form of centronuclear myopathy |
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Term
| Delayed motor milestones, marfanoid body type |
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Definition
| Late Infancy- Early Childhood form of Centronuclear Myopathy |
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Term
| Onset of mild, non-progressive limb weakness in the second or third decade of life |
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Definition
| Late childhood- Early Adult form of Centronuclear Myopathy |
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Term
| A chronic inflammatory myopathy that also involves dermatologic manifestations |
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Definition
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Term
| Heliotropic rash in upper eyelids and periorbital edema that can worsen with sun exposure, B/L symmetrical proximal muscle weakness, erythema of knuckles with raised scaly eruptions (Grotton Lesions) |
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Definition
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Term
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Definition
| Seen in pts with Polymyositis and Dermatomyositis (more specific for PM than DM) |
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Term
| Lab studies for Dermatomyositis |
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Definition
| CPK, Aldolase, LDH, SGOT, SGPT, RF, ANA, Anti-Jo1, Anti-pMi-2,Anti-SRP |
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Term
| Symmetric proximal muscle weakness in the UE and LE, muscle pain/ tenderness, fatigue |
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Definition
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Term
| Lab Studies for Polymyositis |
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Definition
| Serum CK, LDH, Alanine Aminotransferase, Aldolase, CBC (leukocytosis or thrombocytosis), elevated ESR, ANA positive in 1/3 of patients, Anti-Jo1, Anti-signal recognition particles (Anti-SRP) |
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Term
| Weakness, poor endurance, discomfort, exertional dyspnea and tachycardia |
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Definition
| S/S of Mitochondrial Myopathy - mitochondrial myopathy is a myopathy due to mutations occurring in the mitochondrial genome |
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Term
| A benign tumor of smooth m. |
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Definition
| Leiomyoma - think uterine fibroids |
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Term
| Most common neoplasm in women |
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Definition
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Term
| A malignant tumor of smooth muscle |
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Definition
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Term
| Most common site for leiomyosarcomas |
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Definition
| Retroperitoneum or intra-abdominal; other common places include skin and deep soft tissue of extremities (typically associated wtih vv.) |
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Term
| Rare, aggressive, malignant tumors of skeletal m. |
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Definition
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Term
| Most common soft tissue sarcoma of childhood and adolescence |
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Definition
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Term
| 3 Subtypes of Rhabdomyosarcoma |
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Definition
| 1)embryonal (most common); 2)alveolar; 3)pleimorphic |
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Term
| PAX3- FKHR gene fusion dysregulating m. differentiation |
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Definition
| Pathogenesis of Rhabdomyosarcoma |
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