Becker Muscular Dystrophy and Nephrotic-Range Proteinuria: Chance or True Association?

British Journal of Hospital Medicine, Journal Year: 2025, Volume and Issue: 86(2), P. 1 - 8

Published: Feb. 11, 2025

Aims/Background Improved life expectancy has led to an increased recognition of kidney dysfunction as a common complication in adults with Duchenne muscular dystrophy (DMD). However, data on renal impairment Becker (BMD) especially pediatric populations, and remains scarce. Case Presentation We present the case 5-year-old male two-month history foamy urine. Laboratory investigations revealed nephrotic-range proteinuria elevated serum creatine kinase (CK) levels. A subsequent muscle biopsy genetic analysis confirmed diagnosis BMD. Results The patient accepted oral deflazacort for two months. Surprisingly, this targeted treatment at BMD not only reduction CK levels, but also resolved during two-year follow-up. Conclusion This clinical presentation patients is novel highlights rare manifestation. Chronic warrants attention, role characterizing DMD/BMD-associated nephropathy should be explored. Given lifelong heterogeneous nature BMD, multicenter study long-term follow-up are required better understand progression, underlying mechanisms, outcomes complications these patients.

Language: Английский

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Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report

Journal of Medical Case Reports, Journal Year: 2025, Volume and Issue: 19(1)

Published: March 6, 2025

Duchenne muscular dystrophy and Becker are X-linked recessive disorders affecting muscle function, which caused by mutations in the dystrophin gene (also known as gene). The resulting condition is dictated severity of involved mutation; for instance, presents early childhood with rapid progression, whereas exhibits a milder, later onset slower progression. In this report, we present case young patient clinical symptoms dystrophinopathy, whose genetic analysis yielded two previously undescribed within gene. This paper focuses on 12-year-old Syrian male 6-year history progressive gait difficulty, lower limb weakness, recurrent falls. Physical examination revealed positive Gowers' sign pseudohypertrophy, but normal strength. A diagnosis myopathy was supported elevated serum creatine kinase biopsy showing dystrophic changes right quadriceps muscle. While initial deletion duplication screening using multiplex ligation-dependent probe amplification negative, further extensive novel hemizygous variants uncertain significance (c.536A > T p.(Asp179Val) c.680C p.(Ser227Phe), no other clinically relevant neuromuscular panel. identification gene, alongside absence pathogenic genes investigated panel, strongly suggests an dystrophinopathy our patient. highlights need continued exploration dystrophinopathies' variants. Further studies required to elucidate functional impact these improve understanding genotypic phenotypic variability observed disorders, may lead revolution treatment approaches potentially offer curative options patients.

Language: Английский

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Management of a 25-Year-Old Female Patient With Limb-Girdle Muscular Dystrophy With Physiotherapy: A Case Report

Cureus, Journal Year: 2024, Volume and Issue: unknown

Published: Jan. 1, 2024

Limb-girdle muscular dystrophy (LGMD) is a collection of neuromuscular diseases that develop gradually and are rare, genetically, clinically diverse. The weakness in muscles affecting the shoulder pelvic girdles defining feature LGMD. Calpainopathy another name for limb-girdle type 2A (LGMD2A). results from alterations calpain-3 (CAPN3) gene, which CAPN3 protein shortage. Gower's sign most commonly found LGMD2A. prevalence ranges one person every 14,500 to 123,000. We present case 25-year-old hypotensive female patient who complained all four limbs easy fatigue with positive Gower’s sign. For subsequent management, neurologist referred physical therapy department. goals included enhanced muscle strength, increased joint mobility, reduced fatigue, normalizing gait, building dynamic balance postural stability. Diagnosing LGMD clinical variability important, emphasizing importance precise subtype identification tailoring therapy. Tackling specific deficits functional restrictions emerges as critical component holistic care by physiotherapists. Continuous monitoring evaluation using appropriate scales measurements essential tracking performance treatment strategies. Regular follow-up consultations physiotherapist needed identify changes an individual's health alter plan accordingly.

Language: Английский

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The bench to bedside journey of tricyclo-DNA antisense oligonucleotides for the treatment of Duchenne muscular dystrophy

RSC Medicinal Chemistry, Journal Year: 2024, Volume and Issue: 15(9), P. 3017 - 3025

Published: Jan. 1, 2024

The development of antisense oligonucleotide (ASO)-based therapeutics has made tremendous progress over the past few years, in particular for treatment neuromuscular disorders such as Duchenne muscular dystrophy and spinal atrophy. Several ASO drugs have now reached market approval these diseases many more are currently under clinical evaluation. Among them, ASOs tricyclo-DNA originally developed by Christian Leumann shown particularly interesting properties demonstrated promise dystrophy. In this review, we examine bench to bedside journey tricyclo-DNA-ASOs from their early preclinical evaluation fully phosphorotiated-ASOs latest generation lipid-conjugated-ASOs. Finally discuss remaining challenges ASO-mediated exon-skipping therapy DMD future perspectives promising chemistry ASOs.

Language: Английский

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Preventing Progressivity in Becker Muscular Dystrophy Patient: A Rare Case Report

Indonesian Journal of Physical Medicine and Rehabilitation, Journal Year: 2024, Volume and Issue: 13(01), P. 47 - 56

Published: June 27, 2024

Introduction: Becker muscular dystrophy (BMD) is a genetic disease caused by mutation of the dystrophin gene due to defects in Xp21.2 chromosome and inherited X-linked recessive. BMD slowly progressive weakness from proximal muscle. patients are rarer than duchenne (DMD). Case Description: An 18-year-old male came with both legs, mainly at base thigh. The symptoms have been felt for last three years progressively two years. He change walking style difficulty standing sitting position. denied any family history. Examinations found increased creatine kinase (CK) electromyography (EMG) showed myopathy right femoral nerve. Patient took vitamins daily, done exercise therapy neuromuscular electrostimulation (NMES) once week. Conclusion: Diagnosing not only history taking physical examination but also necessary consider CK levels on EMG, even though testing or muscle biopsy could be done. Until now there no guideline related programs, further research expected discuss program detail.

Language: Английский

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What is in the Myopathy Literature?

Journal of Clinical Neuromuscular Disease, Journal Year: 2024, Volume and Issue: 26(1), P. 16 - 31

Published: Aug. 20, 2024

This update begins with a section on inflammatory myopathies covering inclusion body myositis in younger patients, the possibility of pathogenic role for anti-cN1A antibodies, and negative trial arimoclomol myositis. The potential study Janus kinase inhibitors dermatomyositis is discussed as well possible targeted therapy immune checkpoint inhibitor neuromuscular complications. Next, studies disease-modifying or therapies inherited are addressed including encouraging follow-up gene replacement Duchenne muscular dystrophy (DMD), tamoxifen DMD, complex topic X-linked myotubular myopathy. A newly identified condition from 3-hydroxy-3-methylglutaryl-CoA reductase mutations along therapy. Other papers regarding GNE myopathy long-term outcome enzyme infantile onset Pompe disease round out that section. Updates expanding spectra anoctamin-5 myopathies, caveolinopathies, congenital mylagic CACNA1S follow extensive discussion Valosin containing protein proteinopathies, comprehensive management Becker dystrophy, gastrointestinal complications adult DMD.

Language: Английский

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Multi-parameter quantitative magnetic resonance imaging for early detecting skeletal muscle involvement and predicting functional decline in children with Becker muscular dystrophy

Pediatric Radiology, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 2, 2024

Language: Английский

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