1/2. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.Familial startle disease (also known as hyperekplexia and congenital "stiff-man" syndrome) is an autosomal dominant disorder characterized by an exaggerated startle reaction of sudden, unexpected auditory or tactile stimuli; affected neonates also have severe and occasionally fatal hypertonia. We recently encountered a large, five-generation family with startle disease, and treated 16 patients (including 1 neonate) with clonazepam; all experienced dramatic and sustained improvement. We performed systematic linkage analysis in this family, and found tight linkage between the disease locus and a polymorphic genetic marker locus (colony-stimulating factor receptor, or CSF1R) that has been physically mapped to chromosome 5q33-q35. The maximum odds ratio favoring linkage over nonlinkage is greater than 10,000,000:1 (lod score, 7.10) at 3% recombination. Several genes encoding neurotransmitter receptor components have been physically mapped to the subtelomeric region of chromosome 5q, and are thus candidates for the startle disease gene. The availability of additional large pedigrees with startle disease should facilitate identification and characterization of the gene for this disorder.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/2. Physical therapy during in-patient rehabilitation for a patient with stiff-person syndrome.BACKGROUND AND PURPOSE: patients with stiff-person syndrome (SPS) typically show stiffness and spasms, primarily of the trunk and proximal lower extremities. The purpose of this case report is to provide an overview of SPS and a description of the specific physical therapy management strategies used during a brief inpatient rehabilitation stay for a patient with SPS, illustrating the use of the patient/client management model in the Guide to Physical Therapist Practice. CASE DESCRIPTION: The patient was a 33-year-old with a 3- year history of SPS. He spent 10 days in an in-patient rehabilitation hospital where he received physical therapy daily. The initial examination revealed impairments of pain, range of motion, reflex integrity, and motor function, along with abnormalities of posture, balance, and function. The procedural interventions included therapeutic exercise and functional retraining. Stretching exercises were categorized according to their priority and level of difficulty to accommodate for the patient's varying symptoms, and relaxation exercises aimed to reduce the severity of the patient's spasms. The functional retraining program included transfer and progressive gait training. OUTCOMES: The patient showed improvements in ankle range of motion, posture, and gait (distance, speed, and independence), despite continued problems with stiffness, spasms, and pain. DISCUSSION: physical therapists working with patients with SPS have challenges related to the paucity of information in the literature. The chronic, progressive, and variable nature of SPS indicates the need for life-long management, with the inclusion of an exercise program that can be adjusted accordingly, given the frequently changing symptoms experienced by the patient. As is shown with this case, it appears that physical therapy can improve function and some of the impairments associated with SPS.- - - - - - - - - - ranking = 1.5keywords = physical (Clic here for more details about this article) |