The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.

INTRODUCTION/AIMS: Limb-girdle muscular dystrophy R1 (LGMDR1) calpain 3-related usually presents as a recessively transmitted weakness of proximal limb-girdle muscles due to pathogenic variants in the CAPN3 gene. Pathogenic variants in this gene have also been found in patients with an autosomal dominantly inherited transmission pattern (LGMDD4). The mechanism underlying this difference in transmission patterns has not yet been elucidated. Camptocormia, progressive limb weakness, myalgia, back pain, and increased CK levels are common clinical features associated with dominant forms. The p.Lys254del pathogenic variant was associated with camptocormia in two LGMDD4 families. This study aimed to present carriers found in recessively transmitted LGMDR1 families bearing the p.Lys254del variant that do not show muscle weakness. METHODS: DNA sequencing was performed on exon 5 of CAPN3 in family members to establish the carrier status of the pathogenic variant. They were evaluated clinically and MRI was performed when available. RESULTS: Two families presented with the p.Lys254del pathogenic variant in a homozygous or compound heterozygous state. Family members carrying only the pathogenic variant in the heterozygous state did not demonstrate the myopathic characteristics described in dominant patients. Camptocormia and other severe clinical symptoms were not observed. DISCUSSION: We conclude that the p.Lys254del pathogenic variant per se cannot be solely responsible for camptocormia in dominant patients. Other undisclosed factors may regulate the phenotype associated with the dominant inheritance pattern in CAPN3 pathogenic variant carriers.

Two-minute standing endurance test for axial postural abnormalities in patients with Parkinson's disease.

BACKGROUND: Photo-based measurement methods are used to assess axial postural abnormalities (PA) in Parkinson's disease (PD). However, they capture only moments in time. We developed the 2-minute standing endurance test (2 M-SET), which specifically captures temporal changes in posture, as a novel dynamic method for measuring axial PA in patients with PD. RESEARCH QUESTION: This study aimed to verify the effectiveness and validity of the 2 M-SET for capturing temporal changes in axial PA in patients with PD. METHODS: Twenty-eight patients with PD participated. The participants attempted to maintain an upright posture for 2 minutes during three tasks: standing, stepping in place, and walking. The rate of change in postural angle was recorded at 10-second intervals. Based on the results, the 2 M-SET was developed. Therapists evaluated the 2 M-SET using the NeuroPostureApp© to measure anterior trunk flexion (ATF) angles and lateral trunk flexion (LTF) angles at 0, 10, 30, 60, and 120 seconds. To assess reliability, the congruence between the measurements obtained by the therapists and those obtained using a three-dimensional motion-analysis system was examined. For validity, we assessed whether the ATF and LTF angles measured by the therapists could accurately capture postural changes at regular intervals over time. RESULTS: The average postural changes over 2 minutes for the standing, stepping in place, and gait tasks were 59.2±83.5%, 37.6±30.7%, and 45.4±50.6%, respectively. The intraclass correlation coefficients showed high reliability, with values of 0.985 and 0.970 for the ATF and LTF angles, respectively. SIGNIFICANCE: The results of our proposed 2 M-SET method, which uses temporal photo-based measurements to assess the patient's ability to maintain an upright standing position for 2 minutes, demonstrate the potential to capture temporal changes in axial PA. DATA AVAILABILITY STATEMENT: The data supporting the findings of this study are available upon reasonable request and approval from the local ethics committee.

Continuous mobile measurement of camptocormia angle using four accelerometers.

Camptocormia, a severe flexion deformity of the spine, presents challenges in monitoring its progression outside laboratory settings. This study introduces a customized method utilizing four inertial measurement unit (IMU) sensors for continuous recording of the camptocormia angle (CA), incorporating both the consensual malleolus and perpendicular assessment methods. The setup is wearable and mobile and allows measurements outside the laboratory environment. The practicality for measuring CA across various activities is evaluated for both the malleolus and perpendicular method in a mimicked Parkinson disease posture. Multiple activities are performed by a healthy volunteer. Measurements are compared against a camera-based reference system. Results show an overall root mean squared error (RMSE) of 4.13° for the malleolus method and 2.71° for the perpendicular method. Furthermore, patient-specific calibration during the standing still with forward lean activity significantly reduced the RMSE to 2.45° and 1.68° respectively. This study presents a novel approach to continuous CA monitoring outside the laboratory setting. The proposed system is suitable as a tool for monitoring the progression of camptocormia and for the first time implements the malleolus method with IMU. It holds promise for effectively monitoring camptocormia at home.

Significant improvement after sensory tricks and trunk strength training for Parkinson's disease with antecollis and camptocormia: A case report.

BACKGROUND: Patients with Parkinson's disease (PD) exhibit symptoms such as antecollis (AC) and camptocormia (CC). The pathology of these two conditions is unclear. Additionally, standard treatment methods have not been established. The article reports the case of a 65-year-old female patient with AC and CC who was treated with central and peripheral interventions to alleviate symptoms. CASE SUMMARY: We present the case of a 65-year-old female PD patient with AC and CC. The course of the disease was 5 years. She was treated with rehabilitation strategies such as sensory tricks and trunk strength training. During the inpatient period, we compared and analyzed the patient's gait, rehabilitation assessment scale score, and angles of her abnormal trunk posture in the first week, the third week, and the fifth week. The patient's stride length increased, indicating that the patient's walking ability was improved. The Unified Parkinson's Disease Scale Part Three score and CC severity score decreased. Furthermore, the score of the other scale increased. In addition, the patient showed significant improvements in AC, upper CC, and lower CC angles. CONCLUSION: This case study suggested that sensory tricks and trunk strength training are beneficial and safe for patients with AC and CC.

Camptocormia in Parkinson's Disease: Systematic Review of Management Using Spine Surgery.

OBJECTIVE: Postural abnormalities are a debilitating symptom of Parkinson's disease (PD) that may require spinal intervention. Camptocormia is a unique abnormality most seen in PD, defined by a severe forward-flexion of the trunk that completely resolves when supine. The condition presents a challenge due to an undefined pathophysiology and optimal therapeutic approach in a high-risk patient population. In this study, the authors systematically reviewed the literature regarding the use of spine surgery for the treatment of camptocormia in PD. METHODS: PubMed, Embase, Web of Science, and Cochrane Library were systematically queried for studies involving spine surgery as treatment of PD-associated camptocormia. Studies involving nonsurgical management, deep brain stimulation (DBS), non-camptocormic PD patients undergoing surgery, or were out of scope were excluded. RESULTS: The search resulted in 5 studies, with a total of 19 PD patients with camptocormia who underwent spine surgery (73.7% female). The mean age was 69.5 years (range, 59 - 83), and mean PD duration was 69.5 months (range, 36 - 84). Out of 19 patients, 11 required surgical revision (57.9%), with an average of 0.68 revisions per patient (range, 0-2). Radiographic and patient-reported outcomes were inconsistently reported yet showed improvement. Ultimately, 18 patients were reported to have positive outcomes. CONCLUSION: Despite an increased risk of complication and revision that is inherent to PD patients, spine surgery has been proven as a reasonable alternative that should be prospectively studied further, as 18/19 patients had favorable outcomes.

Efecto postural de la estimulación galvánica vestibular en pacientes con enfermedad de Parkinson y camptocormia: serie de casos / Postural effect of vestibular galvanic stimulation in patients with Parkinson's disease and camptocormia: Case series

El objetivo de este trabajo es explorar el efecto postural de la estimulación galvánica vestibular (EGV) en camptocormia. Se trata de una serie de siete casos de pacientes con enfermedad de Parkinson y camptocormia que recibieron EGV. La variable resultado fue la flexión frontal del tronco (FFT), evaluada antes, inmediatamente después de la EGV y un mes después, con ojos abiertos y cerrados. También, se valoró la escala de equilibrio de Berg. La FFT después de la EGV presentó una reducción de 2,3 cm inmediatamente después de aplicar el tratamiento (p = 0,091) y de 2,7 cm un minuto después (p = 0,025). De los cinco pacientes que hicieron el seguimiento al mes, en cuatro de ellos se mantuvo el efecto o incluso, mejoró aún más (p = 0,082). No se observaron cambios en la escala de Berg. Nuestros resultados sugieren una mejora aguda en la postura después de una sesión de EGV, que disminuyó significativamente la FFT. La mayoría de los resultados tuvieron una importancia marginal probablemente debido al tamaño de la muestra.(AU)

The objective of this paper is to explore the postural effect of galvanic vestibular stimulation (GVS) in camptocormia. It is a retrospective case series of 7 Parkinson disease and camptocormia patients. Binaural monopolar GVS was administered. Main outcome variable was trunk forward flexion (TFF), assessed pre and immediately post GVS, and one month after. The TFF was assessed in the standing position, with open and closed eyes. The Berg balance scale was assessed before and 1 month after GVS. The TFF immediately after the GVS showed a reduction of 2.3 cm (p = 0.091) in the first reading, and after a 1-min stance (p = 0.025). Four of 5 patients maintained or even improved this effect a month after (p = 0.082). No changes in Berg balance scale were observed. Our results suggest an acute improvement in posture after one session of GVS, which significantly decreased TFF. Most of the results had a marginal significance due to small sample size.(AU)

«El convento de las monjas torcidas». Síndrome de Pisa y camptocormia inducido por antipsicóticos / “The bent nuns convent”. Antipsycotic-induced Pisa Syndrome and Camptocormia

La camptocormia y el sídrome de Pisa (pleurothotonus) se caracteriza por una postura anormal en el tronco, con una flexión de la columna toracolumbar de entre 15-45° durante la bipedestación y la marcha que se corrige completamente con el decúbito supino. Se asocia a la enfermedad de Parkinson y a otras enfermedades neurodegenerativas, siendo su fisiopatología incierta. Se presentan 3 casos de camptocormia secundaria a antipsicóticos atípicos (AU)

Camptocormia is an involuntary flexion between 15-45° of the thoracolumbar spine when standing, walking or sitting, which disappears completely in the supine position. Is associated to Parkinson's disease and other neurodegenerative conditions, being its physiopatology unknown. We report three cases of atypical anti-psychotic induced camptocormia (AU)

Camptocormia, a propósito de un caso / Camptocormia, on the subject of a case

La camptocormia se define como una rara enfermedad que se presenta en pacientes mayores de 50 años y que se caracteriza por la afectación osteomioarticular que imposibilita realizar las actividades de la vida diaria. El propósito de este estudio es dar a conocer los elementos clínicos, diagnósticos y terapéuticos de la camptocormia. Se presenta el caso de un paciente masculino de 62 años de edad, que acude a consulta con manifestaciones clínicas y dolor. Al examen físico se observó un aumento de la cifosis dorsal con un predominio de la flexión lumbar que causa una inclinación hacia delante del tronco. Los exámenes de laboratorio y estudios imagenológicos permitieron llegar al diagnóstico de camptocormia. Se comenzó tratamiento con diclofenaco sódico en dosis de 100 mg diarios por vía oral durante 10 días y analgésicos. Se interconsultó el caso con el servicio de fisioterapia y rehabilitación para aplicar tratamiento rehabilitador. Esta es una enfermedad que genera gran discapacidad; los trastornos osteomusculares limitan considerablemente la calidad de vida relacionada con la salud de los pacientes(AU)

Camptocormia is conceptualized as a rare disease that occurs in patients over 50 years of age and is characterized by the presence of osteomyoarticular involvement that makes it impossible to carry out activities of daily living. To present the clinical, diagnostic and therapeutic elements of camptocormia. 62-year-old male patient, who consults with clinical manifestations that, together with the results of laboratory examinations and imaging studies, lead to the diagnosis of camptocormia. Camptocormia is a disease that generates great disability; musculoskeletal disorders considerably limit the health-related quality of life of patients with this diseasecamptocormia(AU)