Familial spastic paraplegia with amyotrophy of the hands.

4 Familial spastic paraplegia is not a common condition ; it is believed to be a genetically determined neurological disorder, although its exact mode of inheritance and its relationship to other disorders of the nervous system are still in dispute. The usual manifestations of familial spastic paraplegia are stiffness and weakness in the lower limbs leading to difficulty in walking, the usual complaint being catching the toes on the ground and stumbling. It may present at any age, but usually appears in childhood or early adult life. It is a relatively benign condition. The lower limbs are weak and spastic, with increased tendon reflexes and usually extensor plantar responses, while in most cases there are no other abnormalities. Additional features have been described, such as mental defect, optic atrophy, nystagmus, cataract, dysarthria, cerebellar deficits, kyphosis, pes cavus, and occasionally wasting of the legs, shoulders, or hands. Wasting is not a common feature of this disorder, having been observed in only one or two members of an affected family. It is usually delayed in onset, appearing when spasticity has been established for many years. It has been difficult to account for this wasting and it has been suggested that it is a disuse atrophy in the weak spastic muscles. The cases presented here suggest that it is a specific genetic phenomenon in its own right. Two families-are described, in which wasting of the hands was the first and most marked manifestation. None of the affected individuals complained of weakness in the legs, though examination revealed a pyramidal disturbance. The disorder is inherited on a dominant basis and appears to be a variety of familial spastic paraplegia. Adolf Strumpell was the first to give a full clinical and pathological description of familial spastic paraplegia. In a series of papers between 1880 and 1904 he described two separate families, the Gaums and the Polsters, whom he looked after at the Erlangen Clinic. Since that time papers have been (1963). These have all added fresh families to the literature, the fullest review of the clinical and genetic features being by Bell and Carmichael (1939) and the most comprehensive pathological account by Schwartz (1952). The only families which regularly showed wasting of the hands as part of the disorder were those described by Gee (1889), Ormerod (1904), and Holmes (1905), although Garland and Astley's family (1950) had wasting of the calf muscles and one or …