Nandanwar Sojwal P, Udhoji Swadha P, Raghuveer Raghumahanti
Neurophysiotherapy, Ravi Nair Physiotherapy College, Datta Meghe Institute of Higher Education & Research, Wardha, IND.
Neurophysiotherapy, Ravi Nair Physiotherapy College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus. 2024 Jan 1;16(1):e51428. doi: 10.7759/cureus.51428. eCollection 2024 Jan.
Limb-girdle muscular dystrophy (LGMD) is a collection of neuromuscular diseases that develop gradually and are rare, genetically, and clinically diverse. The weakness in muscles affecting the shoulder and pelvic girdles is a defining feature of LGMD. Calpainopathy is another name for limb-girdle muscular dystrophy type 2A (LGMD2A). Limb-girdle muscular dystrophy type 2A results from alterations in the calpain-3 (CAPN3) gene, which results in a CAPN3 protein shortage. Gower's sign is most commonly found in LGMD2A. The prevalence ranges from one person in every 14,500 to one in every 123,000. We present a case of a 25-year-old hypotensive female patient who complained of weakness in all four limbs and easy fatigue with a positive Gower's sign. For subsequent management, the neurologist referred the patient to the physical therapy department. The physical therapy goals included enhanced muscle strength, increased joint mobility, reduced fatigue, normalizing gait, and building dynamic balance and postural stability. Diagnosing LGMD clinical variability is important, emphasizing the importance of precise subtype identification and tailoring therapy. Tackling specific muscular deficits and functional restrictions emerges as a critical component in the holistic care of LGMD by physiotherapists. Continuous monitoring and evaluation using appropriate scales and measurements are essential for tracking performance and tailoring treatment strategies. Regular follow-up consultations with the physiotherapist are needed to identify changes in an individual's health and alter the treatment plan accordingly.
肢带型肌营养不良(LGMD)是一组逐渐发展的神经肌肉疾病,较为罕见,在遗传和临床方面具有多样性。影响肩部和骨盆带的肌肉无力是LGMD的一个典型特征。钙蛋白酶病是肢带型肌营养不良2A型(LGMD2A)的另一个名称。肢带型肌营养不良2A型是由钙蛋白酶3(CAPN3)基因改变引起的,这导致CAPN3蛋白缺乏。Gower征在LGMD2A中最为常见。患病率在每14500人中有1人至每123000人中有1人之间。我们报告一例25岁的低血压女性患者,她主诉四肢无力、容易疲劳,Gower征阳性。为了后续治疗,神经科医生将该患者转诊至物理治疗科。物理治疗目标包括增强肌肉力量、增加关节活动度、减轻疲劳、使步态正常化以及建立动态平衡和姿势稳定性。诊断LGMD的临床变异性很重要,强调了精确亚型识别和个性化治疗的重要性。解决特定的肌肉缺陷和功能限制是物理治疗师对LGMD进行整体护理的关键组成部分。使用适当的量表和测量方法进行持续监测和评估对于跟踪治疗效果和调整治疗策略至关重要。需要定期与物理治疗师进行随访咨询,以确定个体健康状况的变化并相应地调整治疗计划。