AR. Otro. Total. Distrofia muscular de Becker y Duchenne. 7. 3. 1. 6. 7. Distrofia miotónica de Steinert. 6. 3. 0. 4. 2. Distrofia muscular congénita de Ullrich. PDF | Steinert disease is the most common muscular dystrophy of the adult. Due to its dor de distrofia miotônica (doença de Steinert), em uso de. fenitoína. Introducción: la distrofia miotónica de Steinert, es una enfermedad multisistémica , autosómica dominante de penetrancia variable, causada por.
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A la distrofia muscular miotónica a menudo se le conoce simplemente como distrofia miotónica, y ocasionalmente se le llama enfermedad de Steinert, por el. Fundación de la Distrofia Miotónica: Comité Asesor Médico y Científico. .. Steinert. • Distrofia muscular miotónica (DMM). Nombre y abreviatura a veces. El Texto completo solo está disponible en PDF. Bibliografía. [1.] Distrofia miotónica de Steinert ymalos resultados perinatales. A propósito de un caso.
DM1 symptoms for DM2 include problems with executive function e. Both types are also associated with insulin resistance. Myotonic dystrophy may have a cortical cataract with a blue dot appearance, or a posterior subcapsular cataract. Symptoms may appear at any time from infancy to adulthood. DM causes general weakness, usually beginning in the muscles of the hands, feet, neck, or face. It slowly progresses to involve other muscle groups, including the heart.
Individuals with CTG repeat sizes in the to-1, range usually develop classic DM1 with muscle weakness and wasting, myotonia, cataracts, and often cardiac conduction abnormalities. While the age of onset for classic DM1 is typically in the 20s and 30s and less commonly after age 40 years , classic DM1 may be evident in childhood, when subtle signs such as myotonia and typical facial features including ptosis, weak eyelid closure, weak smile, and thin face are observed.
The typical facial appearance is mainly caused by weakness of the facial and levator palpebrae muscles. Myotonia may interfere with daily activities such as using tools, household equipment, or doorknobs. Handgrip myotonia and strength may improve with repeated contractions the so-called warm-up phenomenon [ Logigian et al ].
The warm-up phenomenon can also improve dysarthric speech [ de Swart et al ]. Muscle weakness is progressive but slow, and correlates with disease duration and CTG repeat expansion size [ Bouchard et al ]. Fatigue is a common finding [ Kalkman et al ]. Musculoskeletal pain is fairly common, especially in the lower limbs.
Cardiac conduction defects of varying degrees of severity are common. These defects are a significant cause of early mortality in individuals with DM1 and are sometimes associated with sudden death. A cardiac pacemaker is sometimes indicated. Less commonly, dilated cardiomyopathy may occur [ Benhayon et al , Lau et al , Chong-Nguyen et al , Wahbi et al ]. Atrial fibrillation in DM1 carries an increased risk of stroke [ Yoshida et al ].
Oropharyngeal dysphagia and swallowing problems have been studied by Ercolin et al . Gallstones occur as a result of increased tone of the gallbladder sphincter [ Hilbert et al ]. Liver function tests e. Cognition and CNS changes. Minor intellectual deficits are present in some individuals, but in others intelligence may be incorrectly assumed to be reduced because of the dull facial expression. Age-related cognitive decline has been reported in some adults [ Modoni et al ].
Overall full-scale IQ tends to be lower in individuals with both mild and classic DM1 [ Jean et al ].
Working memory, executive function, and processing speed can be reduced [ Fujino et al ]. Frontal-parietal lobe deficits have been documented on formal testing [ Sistiaga et al ].
Avoidant, obsessive-compulsive, and passive-aggressive personality features have been reported [ Delaporte , Winblad et al ]. Anxiety and depression are often seen and general quality of life can be seriously impaired [ Antonini et al ]. Hypersomnia and sleep apnea are other well-recognized manifestations that appear later [ Rubinsztein et al , Laberge et al ].
Twenty of 40 individuals with DM1 had obstructive sleep apnea [ Pincherle et al ]. Brain MRI may demonstrate mild cortical atrophy and white matter abnormalities. The white matter changes can be diffuse and extensive [ Caso et al , Okkersen et al ].
Proton magnetic resonance spectroscopy shows probable glutamatergic neuronal degeneration in frontal cortex and white matter [ Takado et al ]. At autopsy, brain neurons may contain tau-associated neurofibrillary tangles [ Caillet-Boudin et al ].
An axonal peripheral neuropathy may add to the weakness but may be uncommon [ Bae et al ]. Peric et al  found evidence of neuropathy by nerve conduction studies in one third of individuals with DM1. Cataracts can eventually be observed as having characteristic multicolored "Christmas tree" appearance by slit lamp examination in nearly all affected individuals.
They may cause visual symptoms at any age, but usually in the 30ss.
Some affected individuals have ophthalmoplegia. Endocrinopathies including hyperinsulinism, thyroid dysfunction, diabetes mellitus, calcium dysregulation, testicular atrophy, and possible abnormalities in growth hormone secretion can be observed, although they are rarely clinically significant. Infertility may occur in otherwise asymptomatic persons [ Matsumura et al ]. Pilomatrixomata and epitheliomas can occur, especially on the scalp, and can be confused with sebaceous cysts [ Zampetti et al ].
Androgenic alopecia is also common [ Campanati et al ]. Cancer risk. Individuals with DM1 may be at increased risk for thyroid, uterine, choroidal melanoma, and possibly colon, testicular, and prostate cancers [ Win et al , Abbott et al , Emparanza et al ].
There was no increased risk of cancer in relatives who did not have DM [ Lund et al ]. Risk of skin cancer is increased, especially basal cell [ Marcoval et al , Wang et al ]. Disease course. Rarely, after several decades of disease, DM1 progresses to the point of wheelchair confinement. Slow progression of weakness has been documented in a nine-year study [ Raymond et al ].
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