Miopatia Flashcards
Quais a relação entre comprometimento funcional e o territorio da fraqueza muscular?
(1) Inability to forcibly close eyes Upper facial muscles
(2) Impaired pucker Lower facial muscles
(3) Inability to raise head from prone position Neck extensor muscles
(4) Inability to raise head from supine position Neck flexor muscles
(5) Inability to raise arms above head Proximal arm muscles (may be only scapular stabilizing muscles)
(6) Inability to walk without hyperextending knee (back-kneeing or genu recurvatum) Knee extensor muscles Inability to walk with heels touching the floor (toe walking) Shortening of the Achilles tendon
(7) Inability to lift foot while walking (steppage gait or footdrop) Anterior compartment of leg Inability to walk without a waddling gait Hip muscles
(8) Inability to get up from the floor without climbing up the extremities (Gowers’ sign) Hip, thigh, and trunk muscles
(9) Inability to get up from a chair without using arms Hip muscles
Quais drogas podem causar mialgia?
Cimetidine Cocaine Cyclosporine Danazol Emetine Gold Heroin Labetalol Methadone D-Penicillamine Statins and other cholesterol-lowering agents L-Tryptophan Zidovudine
Qual o tratamento para distrofia muscular de Duchenne?
(1) Glucocorticoids, administered as prednisone in a dose of 0.75 mg/kg per day, significantly slow progression of Duchenne’s dystrophy for up to 3 years. Some patients cannot tolerate glucocorticoid therapy; weight gain and increased risk of fractures in particular represent a significant deterrent for some boys. As in other recessively inherited dystrophies presumed to arise from loss of function of a critical muscle gene, there is optimism that Duchenne’s disease may benefit from novel therapies that either replace the defective gene or missing protein or implement downstream corrections (e.g., skipping mutated exons or reading through mutations that introduce stop codons).
(2) There is no specific treatment for CMD. Proper wheelchair seating is important. Management of epilepsy and cardiac manifestations is necessary for some patients
Qual o tratamento para distrofia muscular de Becker?
The use of glucocorticoids has not been adequately studied in Becker’s dystrophy.
Qual o tratamento para distrofia muscular de Emery-Dreifuss?
Supportive care should be offered for neuromuscular disability, including ambulatory aids, if necessary. Stretching of contractures is difficult. Management of cardiomyopathy and arrhythmias (e.g., early use of a defibrillator or cardiac pacemaker) may be life saving.
Qual o tratamento da distrofia miotonica?
(1) The myotonia in DM1 rarely warrants treatment, though some patients with DM2 are significantly bothered by the discomfort related to the associated muscle stiffness.
(2) Phenytoin and mexiletine are the preferred agents for the occasional patient who requires an antimyotonia drug; other agents, particularly quinine and procainamide, may worsen cardiac conduction.
(2) A cardiac pacemaker should be considered for patients with unexplained syncope, advanced conduction system abnormalities with evidence of second-degree heart marked prolongation of the PR interval.
(3) Molded anklefoot orthoses help stabilize gait in patients with foot drop.
(4) Excessive daytime somnolence with or without sleep apnea is not uncommon. Sleep studies, noninvasive respiratory support (biphasic positive airway pressure, BiPAP), and treatment with modafinil may be beneficial
Como tratar a distrofia muscular facioscapuloumeral?
(1) No specific treatment is available; ankle-foot orthoses are helpful for footdrop.
(2) Scapular stabilization procedures improve scapular winging but may not improve function.
Como tratar a distrofia oculofaríngea?
(1) Dysphagia can lead to significant undernourishment and inanition, making oculopharyngeal muscular dystrophy a potentially life-threatening disease. Cricopharyngeal myotomy may improve swallowing, although it does not prevent aspiration.
(2) Eyelid crutches can improve vision when ptosis obstructs vision; candidates for ptosis surgery must be carefully selected—those with severe facial weakness are not suitable.
Qual o tratamento das miopatias distais?
(1) Occupational therapy is offered for loss of hand function;
(2) ankle-foot orthoses can support distal lower limb muscles.
(3) The MFMs can be associated with cardiomyopathy (congestive heart failure or arrhythmias) and respiratory failure that may require medical management. Laing’s-type distal myopathy can also be associated with a cardiomyopathy.
Qual o tratamento da paralisia periódica hipocalemica?
(1) The acute paralysis improves after the administration of potassium. Muscle strength and ECG should be monitored. Oral KCl (0.2–0.4 mmol/kg) should be given every 30 min. Only rarely is IV therapy necessary (e.g., when swallowing problems or vomiting is present). Administration of potassium in a glucose solution should be avoided because it may further reduce serum potassium levels. Mannitol is the preferred vehicle for administration of IV potassium. The long-term goal of therapy is to avoid attacks. This may reduce late-onset, fixed weakness.
(2) Patients should be made aware of the importance of a low-carbohydrate, low-sodium diet and consequences of intense exercise.
(3) Prophylactic administration of acetazolamide (125–1000 mg/d in divided doses) reduces or may abolish attacks in HypoKPP type 1. Paradoxically the potassium is lowered, but this is offset by the beneficial effect of metabolic acidosis. If attacks persist on acetazolamide, oral KCl should be added. Some patients require treatment with triamterine (25–100 mg/d) or spironolactone (25–100 mg/d).
(4) However, in patients with HypoKPP type 2, attacks of weakness can be exacerbated with acetazolamide.
Qual o objetivo do tratamento das miopatias inflamatórias?
The goal of therapy is to improve muscle strength, thereby improving function in activities of daily living, and ameliorate the extramuscular manifestations (rash,dysphagia, dyspnea, fever). When strength improves, the serum CK falls concurrently; however, the reverse is not always true. Unfortunately, there is a common tendency to “chase” or treat the CK level instead of the muscle weakness, a practice that has led to prolonged and unnecessary use of immunosuppressive drugs and erroneous assessment of their efficacy. It is prudent to discontinue these drugs if, after an adequate trial, there is no objective improvement in muscle strength whether or not CK levels are reduced.
Como utilizar corticoide nas miopatias inflamatórias?
(1) High-dose prednisone, at least 1 mg/kg per day, is initiated as early in the disease as possible. After 3–4 weeks, prednisone is tapered slowly over a period of 10 weeks to 1 mg/ kg every other day. If there is evidence of efficacy and no serious side effects, the dosage is then further reduced by 5 or 10 mg every 3–4 weeks until the lowest possible dose that controls the disease is reached.
(2) The efficacy of prednisone is determined by an objective increase in muscle strength and activities of daily living, which almost always occurs by the third month of therapy. A feeling of increased energy or a reduction of the CK level without a concomitant increase in muscle strength is not a reliable sign of improvement. If prednisone provides no objective benefit after ∼3 months of high-dose therapy, the disease is probably unresponsive to the drug and tapering should be accelerated while the next-inline immunosuppressive drug is started. Although controlled trials have not been performed, almost all patients with true PM or DM respond to glucocorticoids to some degree and for some period of time; in general, DM responds better than PM.
(3) The long-term use of prednisone may cause increased weakness associated with a normal or unchanged CK level; this effect is referred to as steroid myopathy. In a patient who previously responded to high doses of prednisone, the development of new weakness may be related to steroid myopathy or to disease activity that either will respond to a higher dose of glucocorticoids or has become glucocorticoid-resistant. In uncertain cases, the prednisone dosage can be steadily increased or decreased as desired: the cause of the weakness is usually evident in 2–8 weeks.
Como utilizarar imunossupressores nas miopatias inflamatori
Approximately 75% of patients ultimately require additional treatment. This occurs when a patient fails to respond adequately to glucocorticoids after a 3-month trial, the patient becomes glucocorticoid-resistant, glucocorticoid-related side effects appear, attempts to lower the prednisone dose repeatedly result in a new relapse, or rapidly progressive disease with evolving severe weakness and respiratory failure develops. The following drugs are commonly used but have never been tested in controlled studies: (1) Azathioprine is well tolerated, has few side effects, and appears to be as effective for long-term therapy as other drugs. The dose is up to 3 mg/kg daily. (2) Methotrexate has a faster onset of action than azathioprine. It is given orally starting at 7.5 mg weekly for the first 3 weeks (2.5 mg every 12 h for 3 doses), with gradual dose escalation by 2.5 mg per week to a total of 25 mg weekly. A rare side effect is methotrexate pneumonitis, which can be difficult to distinguish from the interstitial lung disease of the primary myopathy associated with Jo-1 antibodies (described earlier). (3) Mycophenolate mofetil also has a faster onset of action than azathioprine. At doses up to 2.5 or 3 g/d in two divided doses, it is well tolerated for long-term use. (4) Monoclonal anti-CD20 antibody (rituximab) has been shown in a small uncontrolled series to benefit patients with DM and PM. (5) Cyclosporine has inconsistent and mild benefit. (6) Cyclophosphamide (0.5–1 g/m2 IV monthly for 6 months) has limited success and significant toxicity. (7) Tacrolimus (formerly known as Fk506) has been effective in some difficult cases of PM.
Como utilizar imunoglobulina nas miopatias inflamatórias?
In a controlled trial of patients with refractory DM, intravenous immunoglobulin (IVIg) improved not only strength and rash but also the underlying immunopathology. The benefit is often short-lived (≤8 weeks), and repeated infusions every 6–8 weeks are generally required to maintain improvement. A dose of 2 g/kg divided over 2–5 days per course is recommended. Uncontrolled observations suggest that IVIg may also be beneficial for patients with PM. Neither plasmapheresis nor leukapheresis appears to be effective in PM and DM.
Quais os steps do tratamento das miopatias inflamatórias?
The following sequential empirical approach to the treatment of PM and DM is suggested: Step 1: highdose prednisone; Step 2: azathioprine, mycophenolate, or methotrexate for steroid-sparing effect; Step 3: IVIg; Step4: a trial, with guarded optimism, of one of the following agents, chosen according to the patient’s age, degree of disability, tolerance, experience with the drug, and general health: rituximab, cyclosporine, cyclophosphamide, or tacrolimus. Patients with interstitial lung disease may benefit from aggressive treatment with cyclophosphamide or tacrolimus.
