RESUMEN
Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessively inherited skeletal dysplasia. We present four patients (three patients-a brother and a sister and their third cousin-in a family and one patient in another family) with SEDT-PA. All patients had short stature and stubby hands and feet. Their radiographs revealed typical changes for SEDT-PA including platyspondyly, severe osteopenia and dysplastic bone changes. Physical therapy and exercises were performed to all patients in order to decrease in pain and increase or at least maintain joint motion and mobility. Symptomatic relief was achieved in all patients for about a couple of months. The major clinical importance of this rather rare disorder is its similarity to juvenile idiopathic arthritis which has rather different treatment protocol.
Asunto(s)
Artritis Juvenil/diagnóstico , Artropatía Neurógena/genética , Familia , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Adulto , Niño , Diagnóstico Diferencial , Femenino , Genes Recesivos , Mano/diagnóstico por imagen , Mano/fisiopatología , Humanos , Masculino , Osteocondrodisplasias/diagnóstico por imagen , Dimensión del Dolor , Radiografía , Rango del Movimiento Articular , Hermanos , Adulto JovenRESUMEN
Dropped head syndrome is primarily based on weakness localized at neck extensors. It may result from motor neuron disease, myasthenia gravis, and chronic inflammatory demyelinating polyneuropathy and also from various neuromuscular diseases including inflammatory, dystrophic and metabolic myopathies. Camptocormia (CC) on the other hand is an unusual condition characterized by progressive weakness of the extensor vertebral muscles and results in involuntary trunk flexion. CC may emerge as a clinical feature of many different conditions such as several myopathies and Parkinson's disease. The association of dropped head syndrome with CC has been rarely published in the literature. However, this is the only case presenting with concomitant dropped head syndrome and CC as a clinical picture of myotonic dystrophy (MD). In this report we aimed to represent a female patient, who was diagnosed as having myotonic dystrophy, with concurrent dropped head syndrome and CC.
Asunto(s)
Debilidad Muscular/diagnóstico , Distrofia Miotónica/diagnóstico , Músculos del Cuello , Curvaturas de la Columna Vertebral/diagnóstico , Adulto , Diagnóstico Diferencial , Electromiografía , Femenino , Humanos , Debilidad Muscular/complicaciones , Debilidad Muscular/fisiopatología , Distrofias Musculares/diagnóstico , Distrofia Miotónica/complicaciones , Distrofia Miotónica/fisiopatología , Curvaturas de la Columna Vertebral/complicaciones , Curvaturas de la Columna Vertebral/fisiopatología , SíndromeRESUMEN
Heterotopic ossification is the formation of new bone in an abnormal location. It is usually seen following central nervous system disorders, including spinal cord injury, traumatic brain injury, encephalitis, and burn and trauma. Heterotopic ossification in post-stroke hemiplegia is rare; the reported incidence is 0.5-1.2%. It usually occurs on the paretic side of hemiplegic patients. We present here a case of post-stroke hemiplegia with heterotopic ossification in the non-paretic limb.