Įndocrine abnormalities described in individuals with DM2 include insulin-insensitive type 2 diabetes mellitus, thyroid dysfunction, and hypogonadism in adult males. Īnesthetic complications have not been reported in individuals with DM2, and probably occur less frequently than in DM1, where intraoperative and postoperative cardiac arrhythmias, ventilatory suppression, and poor airway protection are recognized possible causes of significant morbidity and mortality. Rarely, a Brugada-like syndrome can occur in individuals with DM2. Although cardiac involvement in individuals with DM2 appears more mild than in DM1, DM2 can be associated with atrioventricular and intraventricular conduction defects, arrhythmias, left ventricular dysfunction, cardiomyopathy, and sudden death. Ĭardiac conduction defects and cardiomyopathy. Epiretinal membranes can be treated surgically. With aging, an increase in macular thickness based on epiretinal membranes can lead to visual impairment. The reported age of cataract extraction ranges from 28 to 74 years. Posterior subcapsular iridescent cataracts can be seen on slit lamp examination as early as the second decade of life. Polyhydramnios, a recognized feature of DM1, has not been reported in individuals with DM2.Ĭataracts and epiretinal membranes. In women with DM2, symptoms may worsen during pregnancy. Proximal leg myotonia is a prominent finding.įluctuating or episodic muscle pain is reported by a majority of affected individuals and can be debilitating. Myotonia (i.e., involuntary muscle contraction and delayed relaxation caused by muscle hyperexcitability) is present in almost all individuals with DM2 but only rarely causes severe symptoms. Calf hypertrophy is seen in a subset of individuals, and is frequently associated with brisk reflexes and restless leg symptoms. Facial weakness and weakness of the ankle dorsiflexors can also be present but are less common. Fifty percent of individuals have hip-muscle weakness that develops after age 40 years. Subsequently, weakness is seen in the elbow extensors and the hip flexors and extensors. The muscles affected in the earliest stages of the disease are the neck flexors and finger flexors.
Individuals with DM2 often come to medical attention because of proximal and axial muscle weakness, myalgia, and myotonia. The absence of developmental defects in any affected family members with DM2 is a reliable and clinically significant difference between DM1 and DM2. Note that unlike myotonic dystrophy type 1 (DM1), which can present in adulthood as a degenerative disorder or with variably severe congenital features, DM2 has not been associated with developmental abnormalities and thus does not cause severe childhood symptoms. The onset of symptoms in individuals with DM2 is typically in the third to fourth decade, with the most common symptoms being muscle weakness and pain, although myotonia during the first two decades has been reported. Iridescent posterior subcapsular cataractsĬardiac conduction defects & cardiomyopathy Muscle dysfunction (proximal & axial weakness, Surveillance: Annual evaluation with neurologist, occupational therapist, and physical therapist annual ophthalmology evaluation for posterior subcapsular cataracts and epiretinal membranes annual EKG, echocardiogram, and 24-hour Holter monitoring to detect/monitor cardiac conduction defects and cardiomyopathy cardiac MRI per cardiologist annual measurement of fasting serum glucose concentration, glycosylated hemoglobin level, thyroid hormone levels, and vitamin D serum testosterone and FSH per endocrinologist.Īgents/circumstances to avoid: Cholesterol-lowering medications when associated with increased weakness. Prompt treatment of hypothyroidism and vitamin D deficiency to reduce secondary weakness and myotonia. Prevention of secondary complications: Anesthetic risk may be increased and therefore assessment of cardiac and respiratory function before and after surgery are recommended. Treatment of manifestations: Ankle-foot orthoses, wheelchairs, or other assistive devices as needed for weakness routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain medications used with some success in myalgia management include mexilitene, gabapentin, pregabalin, nonsteroidal anti-inflammatory drugs, low-dose thyroid replacement, and tricyclic antidepressants myotonia rarely requires treatment but mexilitene or lamotrigine may be beneficial in some individuals removal of cataracts or epiretinal membrane that impair vision defibrillator placement for those with arrhythmias hormone substitution therapy for endocrine dysfunction prokinetic agents may be helpful for gastrointestinal manifestations cognitive behavioral therapy and modafinil may be helpful for fatigue and daytime sleepiness vitamin D supplementation for those with deficiency hearing aids for sensorineural hearing loss.
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