Along with Steinert, Batten and Gibb were the first to report on what is now known as DM1. Batten and Gribb describe two cases of what they termed myotonia atrophica. Patient 1 was a 37-year-old male while patient 2 is a 56-year-old male. In both cases, the authors note wasting of the sterno mastoids, vastus internus and forearm muscles. Both showed a weakness of the orbicularis paperbarum and stiffness in the jaws and tongues as well as initiation of walking. There was lack of or sluggish knee and ankle jerks in both patients. Both had difficulty in relaxing grasp in both hands, which was corroborated by myotonic electrical reactions. Both were also presented with myopathic facies.
2. Hans Steinert was the first to describe and coined …show more content…
Clinical evaluation, genetic testing and 12-lead electrocardiogram were performed on all patients. Cardiac imaging was performed using chocardiography, nuclear imaging or contrast ventriculography on 100 of the patients. The incidence of congested heart failure was 1.8% in the patients examined. Cardiac imaging showed that incidence rate of 19.8 % for left ventricular hypertrophy, 18.6% for left ventricular dilatation, 14% for left ventricular dysfunction, 13.7% for mitral valve prolapse and 6.3% for left atrial dilatation. The authors conclude that in patients with DM1, there is a significant presence of structural cardiac …show more content…
The infant girl was born prematurely in breech position to a mother with DM1. She showed profound hypotonia, more noticeable over posteriror chest wall, and bilateral ptosis. Reflexes were absent and she needed help with breathing and maintaining cardiac output. The infant died at 16 days of life. From the autopsy, the heart showed patent deuctus arteriosus while the lungs were histologically immature. The autopsy also showed a paucity of contractile elements in both the skeletal and cardiac muscles. In particular, the muscle cells contained enlarged, single central nuclei. This led the author to conclude that DM affects the initial development of striated muscles.
9. Modoni, A., Silvestri, G., Pomponi, M. G., Mangiola, F., Tonali, P. A., & Marra, C. (2004). Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. Archives of neurology, 61(12),
2. Hans Steinert was the first to describe and coined …show more content…
Clinical evaluation, genetic testing and 12-lead electrocardiogram were performed on all patients. Cardiac imaging was performed using chocardiography, nuclear imaging or contrast ventriculography on 100 of the patients. The incidence of congested heart failure was 1.8% in the patients examined. Cardiac imaging showed that incidence rate of 19.8 % for left ventricular hypertrophy, 18.6% for left ventricular dilatation, 14% for left ventricular dysfunction, 13.7% for mitral valve prolapse and 6.3% for left atrial dilatation. The authors conclude that in patients with DM1, there is a significant presence of structural cardiac …show more content…
The infant girl was born prematurely in breech position to a mother with DM1. She showed profound hypotonia, more noticeable over posteriror chest wall, and bilateral ptosis. Reflexes were absent and she needed help with breathing and maintaining cardiac output. The infant died at 16 days of life. From the autopsy, the heart showed patent deuctus arteriosus while the lungs were histologically immature. The autopsy also showed a paucity of contractile elements in both the skeletal and cardiac muscles. In particular, the muscle cells contained enlarged, single central nuclei. This led the author to conclude that DM affects the initial development of striated muscles.
9. Modoni, A., Silvestri, G., Pomponi, M. G., Mangiola, F., Tonali, P. A., & Marra, C. (2004). Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. Archives of neurology, 61(12),