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Cureus Apr 2024Membranous nephropathy (MN) is an autoimmune condition that is a common cause of nephrotic syndrome in nondiabetic adults. In this study, we highlight a case of a...
Membranous nephropathy (MN) is an autoimmune condition that is a common cause of nephrotic syndrome in nondiabetic adults. In this study, we highlight a case of a 22-year-old male with a past medical history of arthrogryposis multiplex congenita (AMC) who initially presented with right flank pain and hematuria. Subsequent workup revealed significant proteinuria with biopsy-proven primary MN. Early detection of the disease is critical to establish treatment promptly and prevent complications such as those resulting from a hypercoagulable state.
PubMed: 38752080
DOI: 10.7759/cureus.58339 -
A retrospective study on the correction of distal arthrogryposis with a progressive extension brace.Frontiers in Pediatrics 2024Camptodactyly, clasped thumbs, and windblown hands are distinctive features of distal arthrogryposis (DA). Current therapeutic interventions often yield suboptimal...
PURPOSE
Camptodactyly, clasped thumbs, and windblown hands are distinctive features of distal arthrogryposis (DA). Current therapeutic interventions often yield suboptimal effects, predisposing patients to relapses and complications. This study explicates a corrective approach involving a progressive extension brace for the management of DA and evaluates its clinical outcomes.
METHODS
Between 2015 and 2023, progressive extension braces were used in 32 DA patients, with an average follow-up of 4.8 years. Patients were stratified by age into four groups: 0-1, 1-3, 3-7, and above 7 years. The correction of camptodactyly was assessed based on the total active movement (TAM) of metacarpophalangeal joints (MPJ) and proximal interphalangeal joints (PIPJ), as well as the extensor lag of PIPJ. Clasped thumb correction was evaluated by measuring the thumb-to-index finger metacarpal angle (M1M2 angle) and the degree of deviation at the first MPJ (M1P1 angle). The quality of life for the children was measured using PedsQL 4.0, while parental satisfaction was gauged using the FACE questionnaire.
RESULTS
Earlier intervention with a progressive extension brace yielded superior corrective results. Infants aged 0-1 year and toddlers aged 1-3 years achieved average TAM scores of 152° and 126° after correction; however, patients older than 3 years experienced a significant decrease in TAM with the same treatment. Infants and toddlers with DA showed improvement in the average extensor lag from 46° to 6°. The M1M2 angle increased from an average of 38° to 65°, with the M1P1 angle decreasing from an average of 43° to 5°. After the treatment, average PedsQL scores of 94.7 (parent-reported) and 89.3 (child-reported) were achieved. Among the 32 parents, 24 expressed high satisfaction, 5 expressed moderate satisfaction, and 3 expressed fair satisfaction.
CONCLUSION
The early, progressive, and consistent use of an extension brace significantly improved joint mobility and corrected camptodactyly and clasped thumbs. It can be an effective approach to addressing hand deformities in patients with DA.
PubMed: 38742240
DOI: 10.3389/fped.2024.1385938 -
Clinical Case Reports May 2024This current case series adds to the spectrum of Arthrogryposis renal dysfunction cholestasis (ARC)-associated variants. Increased awareness and early genetic testing...
This current case series adds to the spectrum of Arthrogryposis renal dysfunction cholestasis (ARC)-associated variants. Increased awareness and early genetic testing for ARC are suggested in cases with failure to thrive, renal tubular dysfunction, and rickets, even when the degree of cholestasis is mild. Prompt identification and intervention may improve the quality of life.
PubMed: 38698876
DOI: 10.1002/ccr3.8853 -
Neurology. Genetics Jun 2024To report novel biallelic variants in a family presenting with pure hereditary spastic paraparesis.
OBJECTIVES
To report novel biallelic variants in a family presenting with pure hereditary spastic paraparesis.
METHODS
Two affected sisters presented with unsolved hereditary spastic paraparesis and underwent clinical and imaging assessments. This was followed by short-read next-generation sequencing.
RESULTS
Analysis of next-generation sequencing data uncovered compound heterozygous variants in (NM_058004.4: c.[3883C>A];[5785A>C]; p.[(His1295Asn);(Thr1929Pro)]. Using ACMG guidelines, both variants were classified as likely pathogenic.
DISCUSSION
Here, next-generation sequencing revealed 2 novel compound heterozygous variants in the phosphatidylinositol 4-kinase alpha gene () in 2 sisters presenting with progressive pure hereditary spastic paraparesis. Pathogenic variants in have previously been associated with a spectrum of disorders including autosomal recessive perisylvian polymicrogyria, with cerebellar hypoplasia, arthrogryposis, and pure spastic paraplegia. The cases presented in this study expand the phenotypic spectrum associated with variants and contribute new likely pathogenic variants for testing in patients with otherwise unsolved hereditary spastic paraparesis.
PubMed: 38685974
DOI: 10.1212/NXG.0000000000200152 -
Respirology Case Reports Apr 2024This case highlights arthrogryposis multiplex congenita (AMC) as a rare cause of hypercapnoeic respiratory failure and airway obstruction in adults and emphasizes the...
This case highlights arthrogryposis multiplex congenita (AMC) as a rare cause of hypercapnoeic respiratory failure and airway obstruction in adults and emphasizes the usage of leak-port in tracheostomy-NIV (non-invasive-ventilation) specially in resource poor setting when the tracheostomy-NIV mask is unavailable.
PubMed: 38660342
DOI: 10.1002/rcr2.1361 -
Scientific Reports Apr 2024The primary objective of this study was to evaluate the prevalence of low femoral and lumbar spine bone mineral density (BMD) in adults with arthrogryposis multiplex...
The primary objective of this study was to evaluate the prevalence of low femoral and lumbar spine bone mineral density (BMD) in adults with arthrogryposis multiplex congenita (AMC). We performed a retrospective cohort analysis of adults with AMC who were enrolled in the French Reference Center for AMC and in the Pediatric and Adult Registry for Arthrogryposis (PARART, NCT05673265). Patients who had undergone dual-energy X-ray absorptiometry (DXA) and/or vitamin D testing were included in the analysis. Fifty-one patients (mean age, 32.9 ± 12.6 years) were included; 46 had undergone DXA. Thirty-two (32/51, 62.7%) patients had Amyoplasia, and 19 (19/51, 37.3%) had other types of AMC (18 distal arthrogryposis, 1 Larsen). Six patients (6/42, 14.3%) had a lumbar BMD Z score less than - 2. The mean lumbar spine Z score (- 0.03 ± 1.6) was not significantly lower than the expected BMD Z score in the general population. Nine (9/40, 22.5%) and 10 (10/40, 25.0%) patients had femoral neck and total hip BMD Z scores less than - 2, respectively. The mean femoral neck (- 1.1 ± 1.1) and total hip (- 1.2 ± 1.2) BMD Z scores in patients with AMC were significantly lower than expected in the general population (p < 0.001). Femoral neck BMD correlated with height (rs = 0.39, p = 0.01), age (rs = - 0.315, p = 0.48); total hip BMD correlated with height (rs = 0.331, p = 0.04) and calcium levels (rs = 0.41, p = 0.04). Twenty-five patients (25/51, 49.0%) reported 39 fractures. Thirty-one (31/36, 86.1%) patients had 25-hydroxyvitamin D levels less than 75 nmol/l, and 6 (6/36, 16.7%) had 25-hydroxyvitamin D levels less than 75 nmol/l. Adults with AMC had lower hip BMD than expected for their age, and they more frequently showed vitamin D insufficiency. Screening for low BMD by DXA and adding vitamin D supplementation when vitamin D status is insufficient should be considered in adults with AMC, especially if there is a history of falls or fractures.
Topics: Adult; Humans; Middle Aged; Young Adult; Abnormalities, Multiple; Absorptiometry, Photon; Arthrogryposis; Bone Density; Retrospective Studies; Vitamin D
PubMed: 38589451
DOI: 10.1038/s41598-024-58083-x -
Journal of Orthopaedic Case Reports Mar 2024Bilateral Sprengel deformities, mirror movements synkinesis, and arthrogryposis are described in different combinations in various syndromes but never together.
INTRODUCTION
Bilateral Sprengel deformities, mirror movements synkinesis, and arthrogryposis are described in different combinations in various syndromes but never together.
CASE REPORT
We present a 12-year-old girl who presented with bilateral shoulder deformities and difficulty in coordination while writing. On examination, she was noted to have bilateral Sprengel deformities with flexion contractures of upper-limb joints and mirror movements of both upper and lower-limb joints.
CONCLUSION
In the light of relevant literature, we may speculate that these three have a causal relation and even a genetic basis but further studies are needed to prove the same.
PubMed: 38560296
DOI: 10.13107/jocr.2024.v14.i03.4270 -
Cureus Feb 2024Arthrogryposis multiplex congenita (AMC) consists of more than 400 conditions involving severe joint contractures of at least two or more body regions. Management of...
PURPOSE
Arthrogryposis multiplex congenita (AMC) consists of more than 400 conditions involving severe joint contractures of at least two or more body regions. Management of clubfoot in patients with AMC is notoriously challenging, with a higher likelihood of recurrence than idiopathic clubfoot, which can be treated using the Ponseti technique to avoid or delay more invasive procedures. The purpose of this study is to determine the utility of multiple serial casting as a treatment of clubfoot in AMC using Pirani scores as an objective measure of deformity.
METHODS
Pirani scores were retrospectively collected from 17 AMC patients with a total of 30 clubfeet and two years follow-up from initiation of treatment. Patients with a minimum of three casting series were included. Pre-treatment and post-treatment deformity scores were examined across casting series using analysis of variance (ANOVA) statistical analysis.
RESULTS
The first series pre-treatment Pirani score improved from 4.80±1.54 to 1.68±1.48 (p<0.001). The second series improved from 4.23±1.03 to 2.72±0.916 (p<0.001). The third series had the smallest improvement from 3.87±1.07 to 2.82±1.02 (p<0.001). Change in Pirani scores showed a significant decrease from the first series to the second (p=0.001) and third (p<0.001). In addition, the number of casting days was found to significantly affect the change in scores during the third series (p=0.038).
CONCLUSIONS
The Ponseti technique can improve clubfoot in AMC as measured by the Pirani score. Data shows that early intervention yields better results, with a diminished yet effective ability to elicit change over time.
PubMed: 38505444
DOI: 10.7759/cureus.54398 -
Cureus Feb 2024Arthrogryposis multiplex congenita (AMC) is a group of conditions characterized by multiple joint contractures. This rare disorder causes stiffness of joints, limiting...
Arthrogryposis multiplex congenita (AMC) is a group of conditions characterized by multiple joint contractures. This rare disorder causes stiffness of joints, limiting the range of motion and negatively impacting activities of daily living (ADL). This case reports a 45-year-old male with AMC who was referred to physical medicine and rehabilitation (PMR). He had a limited range of movement in multiple joints and global muscle weakness. However, ADL were feasible, including walking. The patient had an unsteady barefoot gait, causing claudication, which improved significantly with adapted shoes. The primary goal of treatment is to improve the quality of life (QoL), and proper management should be promptly initiated. AMC requires a multidisciplinary approach to care with three mainstays of treatment: rehabilitation, orthoses, and corrective surgeries. Patients should be followed up periodically by their family doctors, and PMR evaluations and rehabilitation should be provided as needed. An orthopedic surgery consultation may be required for surgical interventions to provide optimal outcomes and augment the QoL.
PubMed: 38481879
DOI: 10.7759/cureus.53993 -
Cureus Feb 2024Arthrogryposis multiplex congenital (AMC) is a congenital disorder diagnosed with extremity contractures, restricted joint range of motion, foot abnormalities, and hip...
Arthrogryposis multiplex congenital (AMC) is a congenital disorder diagnosed with extremity contractures, restricted joint range of motion, foot abnormalities, and hip dislocation. The current literature emphasizes medical and surgical management, but very few studies provide insight into physiotherapy management for AMC. We reported the case of a 16-month-old male diagnosed with AMC, operated on both hips for teratologic dislocation. Physiotherapy examination was conducted, and treatment was planned based on the principles of Sensory Integration Therapy (SIT) and neurodevelopmental technique (NDT) with orthosis to assist in functional recovery. He achieved motor milestones within one year of regular physiotherapy treatment. As per our literature search, this is the first study where an attempt has been made to utilize sensory integration along with NDT for the treatment of AMC, although the clinical presentation of the patient shows more musculoskeletal abnormalities.
PubMed: 38469000
DOI: 10.7759/cureus.53965