myotonic dystrophy

myotonic dystrophy

type 1: congenital/childhood/adult/late

type 2: prox myotonic dys/myo/myopathy syndrome

type 1: unstable trinucleotide expansion

adult onset= autosomal dominant

premature balding, muscle degeneration, cataracts, diabetes mellitus, gonadal atrophy, cardiac abnormalities, adrenal insufficiency, cardiac abnormalities

cardiac- AV delay, atrial tachydysrhythmias, diastolic dysfunction, MVP, cardiomyopathy, sudden death

restrictive lung disease, mild hypoxemia

may have respiratory muscle myotonia-- dyspnea-treat w procainamide

alteration of smooth musc function-gastric atony, intestinal hypomotility

aspiration risk from pharyngeal muscle weakness

pregnancy: may ppt CCF, may need CS for uterine atony

infants of mothers with myotonia-- may develop congenital myotonic dystrophy

Rx: supportive / preventive

sodium channel blockers: less conclusive results

Anaes:

sux : exaggerated contracture-- avoid

chronic myopathy: response to ND NMBA may be exaggerated

muscle stimulation with nerve stimulator: may trigger myotonia

neostigmine: may trigger myotonia

sensitive to respiratory depressant effects

medical vivas

met roy after work (i was postcall)

STEMI
unilateral white out: differentials- previous pneumonectomy, hemothorax, collapse
bilateral pneumothorax

pleural effusion -transudative or exudative, light's criteria

Practice ACLS algorhythms

Time Is Of Essence.

'This CXR shows lung metastases as evidenced by bilateral cannonball lesions'

medical conditions

Paget's disease: excessive osteoclastic-mixed osteoclastic-osteoblastic activity. ? a/w paramyxovirus eleated ALP with normal Ca, Po4, aminotransferase. Elderly patient, bone scan. Abnormal bone architecture. normal PTH <1% osteosarcoma.

Treatment: bisphosphonates (risderonic, alendronic, pamidronic acids), calcitonin , vitamin D, exercise.

Osteoporosis: normal calcium, phosphate, variable ALP, PTH unaffected, decreased bone mass.

abnormal PTH: osteomalacia/rickets, osteitis fibrosa cystica

Gullain Barre: AIDP acute INFLAMMATORY demyelinating polyneuropathy. ascending paralysis, autonomic dysfunction. CSF: elevated protein (10-1000mg/dL) , no increased cell count. intubation if VC 20ml/kg NIF <-25cmH20, more than 30% decrease in either VC of NIF within 24 hours

diagnosis: nerve conduction studies

Treatment: IVIG/ plasmapheresis, supportive care.