Hip dislocation is common in patients with arthrogryposis and is observed in 13.5-58 % of cases. Currently, there is no conventional treatment strategy of this pathology. The review analyzes the data of the national and international literature on the etiopathogenesis, clinical picture and classifications, surgical and conservative treatment of this pathology.

Bruck syndrome is a rare autosomal recessive disorder characterized by increased bone fragility and joint contractures similar to those in arthrogryposis and is known to be associated with mutations in the FKBP10 (FKBP prolyl isomerase 10) and PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2) genes. These genes encode endoplasmic reticulum proteins that play an important role in the biosynthesis of type I collagen, which in turn affects the structure and strength of connective tissues and bones in the body. Mutations are associated with disturbances in both the primary collagen chain and its post-translational formation, but the mechanism by which mutations lead to Bruck syndrome phenotypes has not been determined, not only because of the small number of patients who come to the attention of researchers but also because of the lack of disease models. In our work, we investigated the cellular effects of two forms of the wild-type PLOD2 gene, as well as the PLOD2 gene with homozygous mutation c.1885A>G (p.Thr629Ala). The synthesized genetic constructs were transfected into HEK293 cell line and human skin fibroblasts (DF2 line). The localization of PLOD2 protein in cells and the effects caused by the expression of different isoforms—long, short, and long with mutation—were analyzed. In addition, the results of the transcriptome analysis of a patient with Bruck syndrome, in whom this mutation was detected, are presented.

BACKGROUND: The absence of active elbow flexion is the most common problem in children with amyoplasia, leading to daily living difficulties. Many variants of muscle transfer are used for the restoration of active elbow flexion. The pectoralis major and latissimus dorsi muscles are the most used muscles for this purpose; however, the optimal age for these operations is not reported in the literature. AIM: This study aimed to determine the optimal age of children with amyoplasia for the restoration of active elbow flexion. MATERIALS AND METHODS: The retrospective study involved 61 patients (90 upper limbs) with amyoplasia (30 [49%] girls and 31 [51%] boys) who were examined and treated between 2011 and 2020. In 46 (51.1%) cases, we used major muscles, and in 44 (48.9%) cases, the latissimus dorsi muscle was used as a donor muscle. All patients were divided into four groups: group 1 included children aged 13 years (n = 17, 27.9%); group 2, 37 years (n = 30, 49.2%); group 3, 711 years (n = 8, 13.1%), and group 4, 1218 years (n = 6, 9.8%). The clinical examination of the patients was conducted before and after the operation (6 months). Statistical data processing was performed using Statistica 10 and SAS JMP 11. To describe the numerical scales, the average value and standard deviation (M SD) were used. RESULTS: The age of the patients at the time of surgery was 5.16 3.72 years, and the postoperative follow-up period was 41.93 30.13 months. Elbow flexion contractures were observed mainly in groups 13 (p 0.05). The greatest changes in indicators such as the strength of forearm flexor muscles, active elbow flexion, and function of the elbow were noted in group 1 (p 0.05). The same postoperative indicators were worse in group 4 than in younger patients (p 0.05). Groups 3 and 4 had less strength of the donor muscles than groups 1 and 2 (p 0.05). CONCLUSIONS: The retrospective analysis of the results of the restoration of active elbow flexion in children with amyoplasia allowed us to recommend these operations in children aged 13 years. The prevention of elbow flexion contractures and the formation of a new stereotype of movement help improve the self-ability of these patients and the treatment results.

Arthrogryposis, which represents a group of congenital disorders, includes various forms. One such form is amyoplasia, which most commonly presents in a sporadic form in addition to distal forms, among which hereditary cases may occur. This condition is characterized by limited joint mobility and muscle weakness, leading to limb deformities and various clinical manifestations. At present, the pathogenesis of this disease is not clearly understood, and its diagnosis is often complicated due to significant phenotypic diversity, which can result in delayed detection and, consequently, limited options for symptomatic treatment. In this study, a transcriptomic analysis of the affected muscles from patients diagnosed with amyoplasia was performed, and more than 2000 differentially expressed genes (DEGs) were identified. A functional analysis revealed disrupted biological processes, such as vacuole organization, cellular and aerobic respiration, regulation of mitochondrion organization, cellular adhesion, ATP synthesis, and others. The search for key nodes (hubs) in protein–protein interaction networks allowed for the identification of genes involved in mitochondrial processes.

BACKGROUND: One of the main problems that limited or made the self-ability of patients with arthrogryposis impossible is the lack of active elbow flexion due to hypoplasia (or aplasia) of the forearm flexors and, especially the m. biceps brachii. AIM: To evaluate the possibility of active forearm flexion restoration in children with arthrogryposis by partial monopolar transposition of the pectoralis major muscle. MATERIALS AND METHODS: Elbow active flexion restoration by partial monopolar transposition of the pectoralis major muscle to biceps brachii was conducted in 34 children with arthrogryposis (39 upper limbs) from 2011 to 2020. The muscle autograft included a fragment of the fascia of the m. rectus abdominis. Clinical examinations of patients were performed before and after the operation. Statistical data processing was performed using the software packages Statistica 10 and SAS JMP 11. RESULTS: The follow-up results were estimated from 6 to 99 months (44.53 31.72) postoperative. The mean age of patients was 6.24 4.24 years. The active postoperative elbow motion was 0120 (71.94 33.40). The passive postoperative elbow motion did not change and was 90130 (104.12 12.40). Muscles strength after the operation was grade 25. Elbow extension was limited in 30 cases (76.9%) from 0 to 40 (21.70 12.27) without problem in the activities of daily living. Good results were determined in 15 cases (38.5%), satisfactory in 8 (20.5%), and poor in 16 (41%). CONCLUSIONS: This study revealed that our partial monopolar transfer of pectoralis major to biceps brachii technic restored sufficient forearm flexion and improved self-ability without forming severe elbow flexor contractures of more than half of the patients with arthrogryposis.