Neurol Neurochir Pol
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At present, more than 20 different forms of limb-girdle muscular dystrophies (LGMDs) are known (at least 7 autosomal dominant and 14 autosomal recessive). Although these different forms show some typical phenotypic characteristics, the existing clinical overlap makes their differential diagnosis difficult. Limb-girdle muscular dystrophy type 2 (LGMD2A) is the most prevalent LGMD in many European as well as Brazilian communities and is caused by mutations in the gene CAPN3. Laboratory testing, such as calpain immunohistochemistry and Western-blot analysis, is not totally reliable, since up to 20% of molecularly confirmed LGMD2A show normal content of calpain 3 and a third of LGMD2A biopsies have normal calpain 3 proteo-lytic activity in the muscle. Thus, genetic testing is considered as the only reliable diagnostic criterion in LGMD2A. ⋯ These findings may be helpful in establishing diagnostic strategies in LGMD.
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Neurol Neurochir Pol · May 2013
Case ReportsRheumatoid atlantoaxial instability treated by anterior transarticular C1-C2 fixation. Case report.
The authors present a case that demonstrates the usefulness of anterior transarticular screw fixation in the treatment of instability due to rheumatoid arthritis. The surgical technique of this infrequently used procedure is presented. A 35-year-old female patient with medical history significant for rheumatoid arthritis complained of persistent headache and upper neck pain. ⋯ The authors used a right anterolateral approach to the cervical spine to perform fixation of lateral atlantoaxial articulations by means of titanium cannulated compressive screws. On 4-month follow-up examination, successful C1-C2 stabilization was documented. Despite restriction of neck rotation, the patient reported satisfactory improvement and re-turned to work.