Muscular Dystrophy
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Muscular dystrophy •
7 main types with progressive and variable rate in losing of muscle function.
• • • • • • • • • •
The most common, and the most severe form. Due to lack of protein Dystrophin. Painless degeneration of the skeletal muscle. X-linked trait (boys) S/S 2-5 yrs old. In the wheelchair by age of 12. The affected muscle may become enlarged, due to fatty infiltration. Death by 15-25. Secondary to CHF and pneumonia. Serum CK reflect the progression of the disease, with 30-300 folds above normal, later with complete degeneration the level well ↓. Smooth muscle involvement → GI→ hypomotility and gastroparesis. CVS o myocardial degeneration→ loss of R-wave in the lateral leads
Duchenne’s muscular dystrophy
• •
•
o ↓ contractility→ dilated cardiomyopathy, and arrhythmias o MR→ due to papillary muscle dysfunction. o RV outflow obstruction. o May consider B-blockers or ACEI→ delay the development of CHF. Pulmonary o Restrictive lung defects o ↓ coughing → accumulation of secretion→ pneumonia → death
Becker's Muscular Dystrophy • • • •
is similar to Duchenne's muscular dystrophy, but the onset is later in life and slower in progression. remain ambulatory until 60 years of age. abnormal dystrophin or reduced levels of normal dystrophin, which explains the milder clinical course when compared to Duchenne's muscular dystrophy. cardiomyopathy and ventricular dysrhythmias are common
Emery-Dreifuss Muscular Dystrophy •
X-linked recessive disease
• • • • •
characterized by contractures of the elbows, ankles, and spine as well as humeropectoral weakness. The skeletal muscle manifestations are usually mild, whereas cardiac conduction defects can be fatal. caused by a deficiency of emerin, a protein found in the nucleus of skeletal muscle cells and near the intercalated disks of cardiac muscle. This distribution of emerin may explain why cardiac muscle is more severely affected than skeletal muscle.
Limb Girdle Muscular Dystrophy • • • • •
weakness of the muscles of the shoulder and pelvic girdles. autosomal recessive(AR) trait, some forms are inherited as autosomal dominant(AD) traits. Onset 2nd -5th decade caused by an abnormality in the sarcoglycan proteins. dilated cardiomyopathy and atrioventricular conduction disturbances have been reported.
Facioscapulohumeral Muscular Dystrophy •
autosomal dominant trait.
• • •
Patients with this abnormality have diverse clinical manifestations. In addition to weakness of the facial, scapulohumeral, anterior tibial, and pelvic girdle muscles, retinal vascular disease, deafness, and neurologic abnormalities have also been described. 5% have cardiac conduction defects and cardiac dysrhythmias.
Oculopharyngeal Muscular Dystrophy • • • •
typically presents in late adulthood. The primary clinical manifestations are ptosis and dysphagia. Weakness of the muscles of the head, neck, and arms may also develop. Although dysphagia has been attributed to weakness of pharyngeal skeletal muscle, esophageal smooth muscle dysfunction occurs in most patients.
Nemaline Rod muscular dystrophy • • •
AD, nonprogressive skeletal muscle disease mainly affect the proximal muscle group. May associated with other congenital anomalies e.g micrognathia, and dental malocclusion Bulbar palsy→ risk of aspiration
Congenital Muscular Dystrophy
• • •
early onset (in utero or infancy), muscle weakness, and mental retardation. caused by genetic defects that affect production of muscle proteins of the surface of the sarcolemma. Included in this group of muscular dystrophy are merosin-deficient muscular dystrophy, Fukuyama muscular dystrophy, Walker-Warburg syndrome, Ullrich's disease, and muscle-eye-brain (MEB) disease.
Management of Anesthesia • • •
•
Most of the significant complications from anesthesia in patients with muscular dystrophy are secondary to the effects of anesthetic drugs on myocardial and skeletal muscle. A/W→ usually ok B→ o Restrictive lung defects o ↓ coughing → accumulation of secretion→ pneumonia → o post-op resp failure→ Consider ICU. o May develop delayed pul insufficiency. o They are a good candidate for Regional anesthesia. C→
• •
o Myocardial dysfunction → more sensitive to the myocardial depressant effects of potent inhaled anesthetics. o cardiomyopathy o arrhythmias o hyperkalemic arrest and rhabdomyolysis with volatile anesthetics with or without using sux o The effect of volatile anesthetics on abnormal skeletal muscle is not known. However, it could be speculated that volatile anesthetics, by releasing calcium from the sarcoplasmic reticulum, could produce muscle membrane damage and rhabdomyolysis o Sevoflurane is a less potent stimulus for release of calcium from the sarcoplasmic reticulum and may be the preferred volatile agent for patients with Duchenne's muscular dystrophy o may be susceptible to malignant hyperthermia→ have Dantrolene available, and watch the Temp and ET CO2 GI→ hpomotility → risk of aspiration with delayed gastric emptying. Nondepolarizing muscle relaxants can be used, although patients with Duchenne's muscular dystrophy may require a longer recovery time
•
Avoid Sux.
7 main types with progressive and variable rate in losing of muscle function.
• • • • • • • • • •
The most common, and the most severe form. Due to lack of protein Dystrophin. Painless degeneration of the skeletal muscle. X-linked trait (boys) S/S 2-5 yrs old. In the wheelchair by age of 12. The affected muscle may become enlarged, due to fatty infiltration. Death by 15-25. Secondary to CHF and pneumonia. Serum CK reflect the progression of the disease, with 30-300 folds above normal, later with complete degeneration the level well ↓. Smooth muscle involvement → GI→ hypomotility and gastroparesis. CVS o myocardial degeneration→ loss of R-wave in the lateral leads
Duchenne’s muscular dystrophy
• •
•
o ↓ contractility→ dilated cardiomyopathy, and arrhythmias o MR→ due to papillary muscle dysfunction. o RV outflow obstruction. o May consider B-blockers or ACEI→ delay the development of CHF. Pulmonary o Restrictive lung defects o ↓ coughing → accumulation of secretion→ pneumonia → death
Becker's Muscular Dystrophy • • • •
is similar to Duchenne's muscular dystrophy, but the onset is later in life and slower in progression. remain ambulatory until 60 years of age. abnormal dystrophin or reduced levels of normal dystrophin, which explains the milder clinical course when compared to Duchenne's muscular dystrophy. cardiomyopathy and ventricular dysrhythmias are common
Emery-Dreifuss Muscular Dystrophy •
X-linked recessive disease
• • • • •
characterized by contractures of the elbows, ankles, and spine as well as humeropectoral weakness. The skeletal muscle manifestations are usually mild, whereas cardiac conduction defects can be fatal. caused by a deficiency of emerin, a protein found in the nucleus of skeletal muscle cells and near the intercalated disks of cardiac muscle. This distribution of emerin may explain why cardiac muscle is more severely affected than skeletal muscle.
Limb Girdle Muscular Dystrophy • • • • •
weakness of the muscles of the shoulder and pelvic girdles. autosomal recessive(AR) trait, some forms are inherited as autosomal dominant(AD) traits. Onset 2nd -5th decade caused by an abnormality in the sarcoglycan proteins. dilated cardiomyopathy and atrioventricular conduction disturbances have been reported.
Facioscapulohumeral Muscular Dystrophy •
autosomal dominant trait.
• • •
Patients with this abnormality have diverse clinical manifestations. In addition to weakness of the facial, scapulohumeral, anterior tibial, and pelvic girdle muscles, retinal vascular disease, deafness, and neurologic abnormalities have also been described. 5% have cardiac conduction defects and cardiac dysrhythmias.
Oculopharyngeal Muscular Dystrophy • • • •
typically presents in late adulthood. The primary clinical manifestations are ptosis and dysphagia. Weakness of the muscles of the head, neck, and arms may also develop. Although dysphagia has been attributed to weakness of pharyngeal skeletal muscle, esophageal smooth muscle dysfunction occurs in most patients.
Nemaline Rod muscular dystrophy • • •
AD, nonprogressive skeletal muscle disease mainly affect the proximal muscle group. May associated with other congenital anomalies e.g micrognathia, and dental malocclusion Bulbar palsy→ risk of aspiration
Congenital Muscular Dystrophy
• • •
early onset (in utero or infancy), muscle weakness, and mental retardation. caused by genetic defects that affect production of muscle proteins of the surface of the sarcolemma. Included in this group of muscular dystrophy are merosin-deficient muscular dystrophy, Fukuyama muscular dystrophy, Walker-Warburg syndrome, Ullrich's disease, and muscle-eye-brain (MEB) disease.
Management of Anesthesia • • •
•
Most of the significant complications from anesthesia in patients with muscular dystrophy are secondary to the effects of anesthetic drugs on myocardial and skeletal muscle. A/W→ usually ok B→ o Restrictive lung defects o ↓ coughing → accumulation of secretion→ pneumonia → o post-op resp failure→ Consider ICU. o May develop delayed pul insufficiency. o They are a good candidate for Regional anesthesia. C→
• •
o Myocardial dysfunction → more sensitive to the myocardial depressant effects of potent inhaled anesthetics. o cardiomyopathy o arrhythmias o hyperkalemic arrest and rhabdomyolysis with volatile anesthetics with or without using sux o The effect of volatile anesthetics on abnormal skeletal muscle is not known. However, it could be speculated that volatile anesthetics, by releasing calcium from the sarcoplasmic reticulum, could produce muscle membrane damage and rhabdomyolysis o Sevoflurane is a less potent stimulus for release of calcium from the sarcoplasmic reticulum and may be the preferred volatile agent for patients with Duchenne's muscular dystrophy o may be susceptible to malignant hyperthermia→ have Dantrolene available, and watch the Temp and ET CO2 GI→ hpomotility → risk of aspiration with delayed gastric emptying. Nondepolarizing muscle relaxants can be used, although patients with Duchenne's muscular dystrophy may require a longer recovery time
•
Avoid Sux.
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