Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report.

Charcot-Marie-Tooth disease (CMT) is a progressive hereditary neuromuscular neuropathy with pathology in the myelin sheath or the axon. CMT caused by mutations in the Ganglioside-induced differentiation associated protein 1 (GDAP1) gene has been described by a spectrum of phenotypic presentations. GDAP1 is a mitochondrial protein responsible for protecting neuronal bodies from oxidative stress. It is associated with axonal and demyelinating pathophysiology with recessive and dominant modes of inheritance.We describe a case of a 9-year-old Puerto Rican female with clinical and electrodiagnostic results compatible with an axonal sensory-motor neuropathy where a genetic test describes a homozygous GDAP1 missense mutation at the c.692C>T (p.Pro231Leu), previously undetected in a pediatric Latino patient. Mutations in GDAP1 have been previously described in Tunisian, Old Order Amish, European and Japanese families with varying modes of inheritance. To our knowledge, this homozygous variant presentation of the GDAP1 gene is the first to be described in a pediatric Puerto Rican patient without a family history of hereditary sensory motor neuropathy.

Dynamic plantar pressure patterns in children and adolescents with Charcot-Marie-Tooth disease.

BACKGROUND: The dynamic plantar pressure patterns of children and adolescents with Charcot-Marie-Tooth (CMT) disease and its relationship to musculoskeletal alterations may help to understand the natural history of the disease and improve therapeutic interventions. RESEARCH QUESTION: The study compared dynamic plantar pressure patterns in children and adolescents with and without CMT. It also tested the associations between isometric muscle strength (IMS), passive range of motion (ROM), foot posture and dynamic plantar pressure patterns in CMT. METHODS: This cross-sectional study compared children and adolescents (aged 8-18 years) with CMT (n = 40) with a typical group (n = 40). The plantar pressure distribution during gait was recorded, and the contact area (CA), peak pressure (PP), contact time (CT) and pressure-time integral (PTI) in five foot regions (rearfoot, midfoot lateral, midfoot medial, lateral forefoot and medial forefoot) were analysed. The IMS of the dorsiflexors and plantar flexors, passive ROM, and foot posture were also recorded. RESULTS: PP (medial midfoot and medial forefoot) and PTI (rearfoot, lateral midfoot and medial forefoot) were higher in children with CMT compared with the typical group. The adolescents with CMT presented a less CA (whole foot) and a higher CT (medial midfoot) when compared with typical group. For CMT, in the medial midfoot, plantar flexor IMS associated with PP (ß=-11.54, p = 0.01) and PTI (ß=-3.38, p = 0.04); supinated foot posture associated with PP (ß = 33.89, p = 0.03) and PTI (ß = 12.01, p = 0.03). SIGNIFICANCE: Children with CMT showed clear changes in most of the dynamic plantar pressure variables, while adolescents with CMT showed changes mostly in CA and CT. This information together with the associations established between supinated foot, dorsiflexion ROM and plantar flexions IMS can be useful for guiding rehabilitation professionals in their therapies.

Relación entre hiperlaxitud articular, dismetría de miembros inferiores y control postural con los trastornos posturales / Relationship between joint hypermobility, lower limb asymmetry and postural control with postural abnormalities

Objetivos: Determinar si existe relación entre hiperlaxitud articular, dismetría de miembros inferiores y la estabilidad ocontrol postural en bipedestación con los trastornos posturales en adolescentes. Material y métodos: Estudio relacional transversal,realizado en el Instituto Nacional de Rehabilitación “Dra. Adriana Rebaza Flores” Amistad Perú-Japón,Chorrillos-Perú. Participaron todos los estudiantes del 5º año de secundaria de un colegio privado de la ciudad deLima. La hiperlaxitud articular (HA) se evaluó con el score de Beighton; la dismetría de miembros inferiores (DMI),con medición en ortoradiografía; el control postural (CP) con posturografía estática usando una plataforma ISTFOOTWORK; el apoyo plantar (pie plano y pie cavo) con baro-podometría; la escoliosis e hiperlordosis lumbar conmedición radiográfica del ángulo de COBB y de lordosis...

Objectives: To determine an association between joint hypermobility, lower limb asymmetry and postural control withpostural abnormalities in adolescents. Methods: Cross-sectional study conducted at the National Rehabilitation Institute“Dra. Adriana Rebaza Flores” Amistad Perú-Japón, Chorrillos-Perú. All students of the 5th year of a private secondaryschool in Lima participated in the study. Joint hypermobility (JH) was assessed with the Beighton´score; lower limbasymmetry (LLA) was evaluated with X-ray; postural control (PC) was evaluated with static posturography using ISTFOOTWORK platform; plantar surface (flat foot and cavus foot) was evaluated with baro-podometry; scoliosis andlumbar hyperlordosis were measured with X-ray measuring the COBB angle...