Browsing by keyword "Muscle Weakness"

Now showing items 1-3 of 3

    • Case records of the Massachusetts General Hospital. Case 39-2006. A 24-year-old woman with systemic lupus erythematosus, seizures, and right arm weakness.
      Cha, Jang-Ho J; Furie, Karen; Kay, Jonathan; Walensky, Rochelle P.; Mullins, Mark E.; Hedley-Whyte, E Tessa. (2006-12-21)

    • Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama
      Salameh, Johnny; Goyal, Namita; Choudry, Rabia; Camelo-Piragua, Sandra; Chong, Peter Siao Tick (2013-01-01)
      INTRODUCTION: Phosphoglycerate mutase deficiency (PGAM) is a rare metabolic myopathy that results in terminal block in glycogenolysis. Clinically, patients with PGAM deficiency are asymptomatic, except when they engage in brief, strenuous efforts, which may trigger myalgias, cramps, muscle necrosis, and myoglobinuria. An unusual pathologic feature of PGAM deficiency is the association with tubular aggregates. METHODS: We report an African-American patient from Panama with partial deficiency of PGAM who presented with asymptomatic elevation of creatine kinase levels and tubular aggregates on muscle biopsy. RESULTS: Muscle biopsies showed subsarcolemmal and sarcolemmal tubular aggregates in type 2 fibers. Muscle PGAM enzymatic activity was decreased and gene sequencing revealed a heterozygous mutation in codon 78 of exon 1 of the PGAM2 gene, which is located on the short arm of chromosome 7. CONCLUSIONS: PGAM deficiency has been reported in 14 patients, 9 of whom were of African-American ethnicity, and in 5 (36%) tubular aggregates were seen on muscle biopsy. Contrary to previously reported cases, our patient was initially asymptomatic. This further expands the PGAM deficiency phenotype.

    • Risk factors for a decline in upper body function following treatment for early stage breast cancer
      Silliman, Rebecca A.; Prout, Marianne N.; Field, Terry S.; Kalish, Susan C.; Colton, Theodore (1999-03-16)
      PURPOSE: To identify risk factors for a decline in upper body function following treatment for early stage breast cancer. METHODS: We conducted a cross-sectional observational study of 213 women > 55 years of age newly diagnosed with early stage breast cancer interviewed three to five months following their definitive surgery. Patients were classified as having impaired upper body function related to their breast cancer treatment if: 1) they reported having no difficulty in performing any of three tasks requiring upper body function (pushing or pulling large objects; lifting objects weighing more than 10 pounds; and reaching or extending arms above shoulder level) prior to treatment, but reported that any of these tasks were somewhat or very difficult in the four weeks prior to interview, or 2) they reported that performing any of the three tasks requiring upper body function was somewhat difficult prior to treatment, but reported that any of these tasks were very difficult in the four weeks prior to interview. RESULTS: In multiple logistic regression models, both the extent and type of primary tumor therapy and cardiopulmonary comorbidity were significantly associated with a decline in upper body function following breast cancer treatment. CONCLUSION: Given the critical importance of upper body function in maintaining independent living, clinicians should consider the functional consequences of treatment when they discuss treatment options and post-operative care with older women who have early stage breast cancer.