Objective: In patients with severe bilateral congenital arm deficiencies, even simple activities of daily living, such as feeding, may be major challenges. We report here a case of a patient with arthrogryposis multiplex congenita affecting all 4 extremities, who underwent prosthetic replacement after elective transhumeral amputation of his right functionless arm.
Case Report: A 22-year-old man with arthrogryposis multiplex congenita had severe deficits of his upper limbs. Previous surgeries for upper and lower limbs had enabled this patient to walk without aids; however, his upper limbs remained severely impaired. After prosthetic rehabilitation, including nerve and muscle transfers, a carefully planned elective amputation, signal processing and a comprehensive rehabilitation programme, the patient was able to independently conduct normal activities of daily living that had hitherto been impossible. The Disabilities of the Arm, Shoulder and Hand measure improved from 73.3 to 44.2, the Action Research Arm Test improved from 10 to 18 out of 57 points and the Southampton Hand Assessment Procedure improved from 8 to 23 after prosthetic replacement.
Conclusion: Prosthetic replacement can improve upper limb function in patients with severe congenital limb deficiencies. In the case reported here, functional rehabilitation had a positive impact on the patient's quality of life and self-confidence, as he integrated the prosthesis into his body image.
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http://dx.doi.org/10.2340/16501977-2123 | DOI Listing |
Clin Genet
January 2025
Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
SUMOylation involves covalent attachment of small ubiquitin-like modifier (SUMO) proteins to specific lysine residues on target proteins and regulates various aspects of their function. Sentrin-specific proteases (SENPs) are key players in both the conjugation reaction of SUMO proteins to their targets and the subsequent deconjugation of SUMO-conjugated substrates. Here, we provide the first comprehensive prenatal description of a lethal syndrome linked to a novel homozygous stop-gain variant in SENP7 c.
View Article and Find Full Text PDFClin Genet
January 2025
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1/3000 to 1/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved splice donor site, resulting in the mis-splicing of the affected exons. SENP7 is a deSUMOylase that is critical for sarcomere assembly and skeletal muscle contraction by regulating the transcriptional program in the skeletal muscle.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor.
Results: We present two related patients from Kosovo, describing the clinical, genetic, and therapeutic aspects of the syndrome. The identified novel VIPAS39 pathological variants (c.
Am J Med Genet A
December 2024
Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.
Biallelic variants in GLDN have recently been associated with lethal congenital contracture syndrome 11 (LCCS11), a form of fetal akinesia deformation sequence (FADS) with high neonatal mortality. In this report, we describe five individuals from two Canadian Inuit families originating from different communities in Nunavik all affected with FADS and harboring a rare homozygous missense variant, [NM_181789.4:c.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype-phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages.
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