{'fraction_non_alphanumeric': 0.034331227684702, 'fraction_numerical': 0.023070585004119747, 'mean_word_length': 5.20442930153322, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 4, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Playing competitive basketball in face of late‐onset pompe disease

In January, 2010, a 9-year-old boy was evaluated for persistent creatine kinase (CK) elevations detected incidentally on routine testing. Otherwise, the child was completely asymptomatic, playing basketball in the junior series in his hometown. He was diagnosed with lateonset Pompe disease through a selective screening program. In particular, a-glucosidase activity was abnormal on dried blood spot assay (3 nM/h/ml, normal >6 nM/ h/ml). Suspected Pompe disease was confirmed both at the biochemical (a-glucosidase activity in lymphocytes: 0.003 mg/min/mg protein, normal 0.015–0.040 mg/ min/mg protein) and molecular (compound heterozygosity c.232-13T>G/c.737T>G) levels. Echocardiography showed normal cardiac anatomy and function. He continued to play basketball after the diagnosis with regular clinical and biochemical follow-up. Six months later, enzyme replacement therapy (ERT) with alglucosidase alfa 20 mg/kg every 2 weeks was started because of recurrent myalgia, slightly abnormal 6-minute walk tests (417.5 6 14.8 m, age-related normal 447–529 m), and increasing hyperCKemia. The treatment was associated with rapid resolution of clinical symptoms along with normalization of the walking test (470.2 6 11.6 m) and progressive reduction of CK (Fig. 1). Since 12 years of age, the patient continued to play competitive basketball and was noted to be particularly skilled and athletic (height 182 cm, weight 62 kg). To date, after 24 months of competitive basketball activity, this young man with late-onset Pompe disease treated with ERT has remained asymptomatic. He has reported no myalgias, and CK concentrations measured in the clinic have normalized under treatment (Fig. 1). His participation has included a schedule of 9 hours/week of vigorous physical activity (2-hour training sessions 4 days per week and 1 game per week lasting 1 hour). Exercise and physical activity during participation was at a submaximal level based on the patient’s rate of perceived exertion and on average heart rate assessed during exercise (average 160 beats/ min). Rests were included, allowing participation while offering protection with respect to residual muscle fragility and vulnerability reported in Pompe disease, even while on on ERT. Pompe disease is an autosomal recessive progressive metabolic myopathy due to deficient a-glucosidase activity. The biochemical defect leads to lysosomal glycogen storage in skeletal, cardiac, and smooth muscle. Clinically, Pompe disease can manifest at any age, and lower residual a-glucosidase activity has been related to earlier and more severe clinical presentations. Classic Pompe disease presents within the first months of life with hypotonia, feeding difficulties, and reduced spontaneous movements. Severe hypertrophic cardiomyopathy with thickening of ventricular walls and septum is a hallmark of the disease. If untreated, the condition leads to death within the first year of life. On the other hand, later onset variants are characterized by variable progression of skeletal muscle weakness or respiratory insufficiency despite the common occurrence of the c.232-13T>G haplotype. Heart involvement is rare in late-onset Pompe disease, and spontaneous regression of cardiomyopathy has been reported. In the absence of clinical symptoms, unexplained hyperCKemia may be due to aglucosidase deficiency. ERT with alglucosidase alfa was approved in 2006. Presymptomatic patients with subtle objective signs are candidates for ERT. More than 350 patients with lateonset Pompe disease treated with alglucosidase alfa have