We report childhood‐onset autosomal‐dominant limb‐girdle muscular dystrophy (LGMD) in a Chinese family with complete atrioventricular conduction block in the adult members. Six patients, including 5 men and 1 woman with an age of onset from 3 to 7 years, were affected. The grandfather had exercise intolerance since childhood and complete heart block with pace‐maker placement at age 52. Three siblings had proximal muscle weakness and/or wasting since age 5 and heart block in their 40s. Two grandsons at the ages 7 and 3 showed exercise intolerance, and proximal muscle weakness and wasting. Sinus bradycardia was present in the elder grandson. Muscle enzymes were elevated in 3, particularly in childhood. Muscle biopsies from the proband showed myopathic changes with fatty degeneration, whorled fibers, and rimmed vacuoles. In adult patients, muscle magnetic resonance imaging scans disclosed atrophic changes and fatty degeneration in the gluteal, quadriceps, adductors, hamstrings, gastrocnemius, and soleus muscles, while in child probands the early atrophic changes were seen in the gluteal and hamstrings muscles. We conclude that this distinct family is characterized by childhood‐onset autosomal‐dominant LGMD with heart block and that prevention of sudden death in these patients is important. © 1997 John Wiley & Sons, Inc. Muscle Nerve, 20, 286–292, 1997.
We report childhood-onset autosomal-dominant limb-girdle muscular dystrophy (LGMD) in a Chinese family with complete atrioventricular conduction block in the adult members. Six patients, including 5 men and 1 woman with an age of onset from 3 to 7 years, were affected. The grandfather had exercise intolerance since childhood and complete heart block with pace-maker placement at age 52. Three siblings had proximal muscle weakness and/or wasting since age 5 and heart block in their 40s. Two grandsons at the ages 7 and 3 showed exercise intolerance, and proximal muscle weakness and wasting. Sinus bradycardia was present in the elder grandson. Muscle enzymes were elevated in 3, particularly in childhood. Muscle biopsies from the proband showed myopathic changes with fatty degeneration, whorled fibers, and rimmed vacuoles. In adult patients, muscle magnetic resonance imaging scans disclosed atrophic changes and fatty degeneration in the gluteal, quadriceps, adductors, hamstrings, gastrocnemius, and soleus muscles, while in child probands the early atrophic changes were seen in the gluteal and hamstrings muscles. We conclude that this distinct family is characterized by childhoodonset autosomal-dominant LGMD with heart block and that prevention of sudden death in these patients is important.Limb-girdle muscular dystrophy (LGMD) was first involvement with cardiomyopathy, arrhythmia, or atrioventricular block in LGMD is not usually presdefined as a nosological entity and characterized by ent. 3,13,16,19,28,36,37 Recently, we encountered a Chinese muscle weakness and wasting in limb-girdle areas. 38 family with autosomal-dominant inheritance, early-After an exclusion of spinal muscular atrophy (SMA), onset limb-girdle muscular dystrophy, and heart dystrophinopathies, inflammatory, metabolic and block in adulthood. We report the clinical manifestacongenital myopathies, LGMD still remains a hetertions and the studies on electrophysiology, muscle ogenous group of muscle disorders. 31 The inherimagnetic resonance imaging (MRI), and histopatholtance pattern in LGMD is usually autosomal recessive ogy in this family. or sporadic. 25 Autosomal-dominant inheritance is relatively uncommon.
Objective: To evaluate the therapeutic efficacy of a steroid switch from prednisone to dexamethasone in Asians with metastatic castration-resistant prostate cancer (mCRPC) that progressed after docetaxel chemotherapy. Methods: This study included postdocetaxel patients with mCRPC treated with abiraterone acetate combined with prednisone (AA + P) who had experienced prostate-specific antigen (PSA) progression. All patients underwent a steroid switch from prednisone (10 mg/day) to dexamethasone (1 mg/day). The PSA level and clinical symptoms were recorded. Moreover, follow-up was conducted until patients were either lost to follow-up or death. Results: This study included 11 patients from a single center in Taiwan. The median follow-up time starting from AA + P treatment was 19.47 months. Seven patients (63.64%) had >30% PSA decline, and 6 patients (54.55%) had >50% PSA decline. The median percentage of PSA decline was 83.6%. The median time until PSA progression after the steroid switch was 11.38 months. No adverse events greater than grade 3 were noted. Conclusions: Steroid switching is a feasible and effective therapy in docetaxel-treated Asian patients with mCRPC.
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