Gait Alterations in Two Young Siblings with Progressive Pseudorheumatoid Dysplasia

Abstract

Progressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive inherited skeletal dysplasia characterized by progressive non-inflammatory arthropathy affecting primarily the articular cartilage. Currently, little is known about the functional musculoskeletal aspects of these patients. In particular, an abnormal gait pattern has been described, without a clear hypothesis of the underlying causes in terms of muscular activity. This study presents the case of two siblings, 4 and 9 years old, a boy and a girl, respectively, suffering from PPRD at different stages of the disease. In addition to the clinical assessment, an instrumental gait analysis was performed. Swelling of the interphalangeal finger joints and fatigue were present in both cases. Gait abnormalities consisted of a relevant reduction in the ankle plantarflexion in the terminal phase of the gait cycle, associated with reduced gastrocnemius EMG activity and increased activity of the tibialis anterior, resulting in overloading at the initial peak of ground reaction forces. Gait anomalies observed were similar in both siblings with PPRD, although at different ages, and confirm walking patterns previously described in the literature. The calf muscle strength deficit and reduced activity during the stance phase of gait present in these two siblings indicate the typical absence of the propulsive phase. A stomping gait pattern, with the foot striking the ground hard on each step, was originally described. Further neurophysiological investigations are required to determine the origin of muscle weakness.

Podološka analiza djece s motoričkim poremećajima (20 slučajeva) – naša iskustva

“…The role of the podiatrist (1), a healthcare profession that is often under-recognized, is crucial in the multidisciplinary approach to managing disabling conditions, particularly those of neurological origin in the pediatric population (2)(3)(4)(5)(6)(7). The importance of podiatry, as a subspecialty within orthopedics, becomes even more pronounced when dealing with young patients, where the emphasis should be on prevention as a primary intervention, in line with ethical principles (8,9).…”

Novel Methods for Managing and Assessing Gait and Posture in Pediatric Population

“…This special edition presents a variety of articles that further our understanding of novel assessments and interventions for improving gait and posture in the pediatric population. The special issue encompasses a case study [ 4 ], two case series [ 5 , 6 ], a prospective case-controlled study [ 7 ], and an updated meta-analysis [ 8 ], providing a comprehensive overview of the topic.…”

“…In a case series by Sassi, Faccioli [ 5 ], the authors demonstrated the importance of novel gait and posture assessment strategies for determining appropriate rehabilitative interventions. The authors discussed two rare cases of Progressive Pseudohematoid Dysplasia in siblings manifesting gait abnormalities and muscle weakness.…”