Browsing by Author "Paprad T."

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    Spinal muscular atrophy in an upper-middle-income nation before the advent of reimbursed disease-modifying therapies
    (2024-08-30) Sakpichaisakul K.; Katanyuwong K.; Intusoma U.; Paprad T.; Suwanpakdee P.; Khongkhatithum C.; Sanmaneechai O.; Sakpichaisakul K.; Mahidol University
    Objective To elucidate the clinical characteristics and standard of care (SoC) of spinal muscular atrophy (SMA) patients in Thailand, focusing on primary endpoints: age at death and a composite of death or tracheostomy need. Design Retrospective observational study. Setting Seven tertiary centres across Thailand. Patients Records of 110 patients with genetically confirmed SMA, spanning 2012-2021. Interventions Historical data review; no active interventions. Main outcome measures Age at death and a composite measure of death or tracheostomy necessity. Results The cohort included 1 SMA0, 50 SMA1, 40 SMA2 and 19 SMA3 cases. Median ages at the onset and diagnosis of SMA1 were 3 and 6.2 months. Of SMA1 patients, 63% required ventilators, and eight received dimethyltryptamines (DMTs) at a median of 15 months (range 6.4-24.5 months). The median time from onset to DMT was 11 months (range 4.2-20.5 months). Among SMA1 patients, 73% died by the study's end. SMA2 and SMA3 patients' median onset ages were 11 and 24 months, respectively, with diagnosis at 24.8 and 68.7 months. Half of all types received physical therapy. Conclusions Significant delays in diagnosis and SoC access, including DMTs, were observed, underscoring urgent needs for improved diagnostic and care strategies to enhance SMA patient outcomes in Thailand.
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    Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center
    (2025-01-01) Paprad T.; Amornvit J.; Pobsuk T.; Santananukarn M.; Taychargumpoo C.; Sirichana W.; Ittiwut C.; Ittiwut R.; Suphapeetiporn K.; Pasutharnchat N.; Numkarunarunrote N.; Paprad T.; Mahidol University
    Limb-girdle muscular dystrophy R7 telethonin-related (LGMDR7) is a rare autosomal recessive disorder caused by TCAP gene mutations. This study described the phenotypic spectrum, genetic characteristics, and muscle magnetic resonance imaging (MRI) findings of patients with LGMDR7. Five patients from three unrelated families with TCAP mutations were retrospectively identified at the Neuromuscular Center at King Chulalongkorn Memorial Hospital. Demographic, clinical, laboratory, and muscle MRI data were collected and analyzed. We observed a mild phenotype associated with asymptomatic/paucisymptomatic hyperCKemia in one family and a classic limb-girdle muscular dystrophy phenotype in two unrelated patients. The novel deletion variant c.136_137del was identified in a compound heterozygous state with c.26_33dup in a family with a mild phenotype. Muscle MRI of four patients revealed consistent sparing of the sartorius muscle in all patients. This study expands the clinical and genetic spectrum of LGMDR7 by demonstrating an asymptomatic/paucisymptomatic hyperCKemia phenotype and identifying the novel c.136_137del variant. The muscle MRI findings highlight a characteristic pattern in which the sartorius muscle is consistently uninvolved. These findings contribute to a better understanding of the disease and assist in developing future diagnostic strategies for affected individuals, specifically by using clinical profiles in conjunction with the characteristics of muscle MRI.
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    Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
    (2023-12-01) Summa S.; Ittiwut C.; Kulsirichawaroj P.; Paprad T.; Likasitwattanakul S.; Sanmaneechai O.; Boonsimma P.; Suphapeetiporn K.; Shotelersuk V.; Mahidol University
    Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determine the utilisation of exome sequencing (ES) for Thai paediatric patients with muscular disorders. Of 176 paediatric patients suspected of genetic/inherited myopathies, 133 patients received a molecular diagnosis after performing conventional investigations, single gene testing, and gene panels. The remaining 43 patients from 42 families could be classified into three groups: Group 1, MLPA-negative Duchenne muscular dystrophy (DMD) with 9 patients (9/43; 21%), Group 2, other muscular dystrophies (MD) with 18 patients (18/43; 42%) and Group 3, congenital myopathies (CM) with 16 patients (16/43; 37%). All underwent exome sequencing which could identify pathogenic variants in 8/9 (89%), 14/18 (78%), and 8/16 (50%), for each Group, respectively. Overall, the diagnostic yield of ES was 70% (30/43) and 36 pathogenic/likely pathogenic variants in 14 genes were identified. 18 variants have never been previously reported. Molecular diagnoses provided by ES changed management in 22/30 (73%) of the patients. Our study demonstrates the clinical utility and implications of ES in inherited myopathies.