Back to Search
Start Over
Autosomal dominant familial spastic paraplegia: description of a large New England family and a study of management.
- Source :
-
Developmental medicine and child neurology [Dev Med Child Neurol] 1990 Dec; Vol. 32 (12), pp. 1098-104. - Publication Year :
- 1990
-
Abstract
- A large New England family with autosomal dominant familial spastic paraplegia (ADFSP) is described. In a pedigree of 173 family members, 71 affected individuals were identified. 16 cases examined by the authors are described with regard to the natural history of ADFSP in this family, and a staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, ADFSP was found to have a homogeneous clinical course, with nearly complete penetrance. Onset, with involvement limited to the lower extremities, occurred by three years of age, after which no significant progression was noted. Early, aggressive habilitative care may result in more functional ambulation for the youngest family members.
- Subjects :
- Adolescent
Adult
Braces
Child
Child, Preschool
Chromosome Disorders
Combined Modality Therapy
Crutches
Female
Gait genetics
Humans
Infant
Male
Middle Aged
Neurologic Examination
New England
Pedigree
Spastic Paraplegia, Hereditary rehabilitation
Chromosome Aberrations genetics
Genes, Dominant
Spastic Paraplegia, Hereditary genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0012-1622
- Volume :
- 32
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Developmental medicine and child neurology
- Publication Type :
- Academic Journal
- Accession number :
- 2286310
- Full Text :
- https://doi.org/10.1111/j.1469-8749.1990.tb08530.x