Myotonic dystrophy type 1, also known as Steinert’s disease, is a mulsystemic disorder that primarily affects the skeletal and smooth muscle, as well as the eye, heart, endocrine system and central nervous system. This pathology is uncommon and is characterized by generalized myotonia and multiorgan damage. Its clinical expression is variable, but in most cases, there is a variable degree of muscle weakness, cardiac arrhythmias and other conduction disorders, endocrine disorders, sleep disorders, cataracts and baldness. This is a hereditary disease with three recognizable phenotypes: mild, classic and congenital. Depending on the presentation, it may show poor prognosis and a usually rapid progression, which lacks of effective treatment. Case presentation: 54-year-old female patient who enters the Traumatology service of San Vicente de Paul Hospital in Ibarra, Ecuador for presenting a left femur fracture resulting from a fall of her own height. During hospitalization, the patient presented with type II respiratory failure without apparent cause, so she was admitted to the ICU for ventilatory support. The patient had difficulty achieving ventilatory weaning due to distal and proximal muscle weakness. Electromyography reveals a myopathic pattern compatible with the diagnosis of myotonic dystrophy type I. A tracheotomy was performed, and she was discharged for follow-up by the Internal Medicine service. The performance of a molecular diagnostic study was suggested. Conclusions: The molecular study is the diagnostic gold standard to determine with certainty the presence of myotonic dystrophy type I, besides allowing to determine its severity depending on the number of repeated. However, resource limitations in the present case forced evidence to be sought for diagnosis through electromyography. The treatment remains symptomatic. Because of its inheritance pattern being autosomal dominant, due to the expansion of trinucleotides, family members must be evaluated because they may have the diagnosis even though asymptomatic.
electromiografía
Construcción de una tabla de valores referenciales para un laboratorio de neurofisiología.
This is an study performed to develop a normal reference table of values for nerve conduction studies including sensory, motor and late responses (F Wave and H Reflexes) of the median, ulnar, radial, sural and peroneal nerves; same as also its correspondent late responses and the study of the median-flexor carpi radialis and tibial-soleus complexes in a neurophysiology laboratory located in an Andean city about 2600 m above the level of the sea. This consecutive study includes 100 patients referred for evaluation, free of neuropathic pathology same as also without risk factors associated to peripheral nerve disease. The mean age was 49 year old; with the lower and upper limits between 15 and 71 years old. The normal conduction values (and standard deviation) for sensory responses are (in meter by second): median nerve 53.3±2.2, ulnar nerve 55.2±3.6, radial nerve 54.8±4.2, sural nerve 57.5±5, and 53.1±4.5 in the superficial peroneal nerve. The motor conduction normal values are: 57.5±4.6 for the median nerve, 63.7±5.3 for the ulnar nerve, 57.9±4.2 the radial nerve, and 55.7±3.6 for the common peroneal nerve. The latency when we study the late responses showed as normal values (in milliseconds); 23.5±1.3 for the median nerve, 23.9±1.5 for the ulnar nerve, and, 40.0±2 for the peroneal nerve. The H Reflex latency also in milliseconds was 16.3±1.2 for the median-flexor carpi radialis complex; and 28.7±2 for the tibial-soleus complex. The results are very similar compared to the international published data, in relation to the height of the included subjects; the difference is related to this factor and shows normal responses once we eliminated the confound factors depending in the environment (skin temperature as the principal).
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Lesión del Nervio Espinal Accesorio. Importancia de los Estudios Electromiográficos.
The spinal accessory nerve (XI cranial nerve) injury is an unusual clinical entity and, sometimes, of complex diagnosis. The objective of this study is to describe the syndromic picture attending to its main etiologic factors, the different forms of presentation and the value of the neurophysiological studies, especially of electromyography in its diagnosis. The information that neurophysiology brings is of great value at the moment of establishing a precocious diagnosis as well as in the evolution and prognosis of the lesion. There are few available data in the literature that describe neurophysiological techniques for its correct management.
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Partial Thenar Atrophy as a Physical Manifestation of Martin Gruber Anastomosis.
Martin Gruber anastomosis is a frequent finding on electrodiagnostic examination and has three common variants. Much has been written about these variants such as the anatomic course of crossover fibers and the electrodiagnostic findings. However, little has been written on associated physical findings that might suggest such a diagnosis. In this report the physical examination findings clearly supported a diagnosis of a Type III Martin Gruber anastomosis that was initially established through electrodiagnostic testing. Awareness of this pattern on physical examination could provide an early clue to the possible presence of anomalous innervation.
