ABSTRACT
Niemann-Pick disease type C (NPC) is an autosomal recessive lysosomal lipid storage disease associated with impaired intracellular cholesterol trafficking. A wide spectrum of clinical phenotype has been described, with a possible onset at all ages of life from the neonatal period to adulthood, more often in childhood. Typically, hepatosplenomegaly, dystaxia, dysphagia, dysarthria and dementia are presented in NPC patients. Neurologic symptoms vary according to the onset age, but prolonged neonatal cholestasis, splenomegaly, cataplexy and vertical supranuclear gaze palsy are more specific signs to the diagnosis of the disease. Impaired cholesterol trafficking and unesterified cholesterol accumulation in the late endosomes and lysosomals, as a results of mutations in NPC1 or NPC2 genes, are initial for the disease, and defective cellular autophagy, defective lysosomal calcium homeostasis and oxidative stress may all play roles in the physiological processes. The definite diagnosis requires demonstration of unesterified cholesterol accumulated in fibroblasts cultured from skin biopsies or of pathogenic mutation of NPC1/NPC2 genes. Miglustat, the only available treatment approved to date, can alleviate neurological symptoms and slow disease progression when administered earlier.
Subject(s)
Humans , Diagnosis, Differential , Niemann-Pick Disease, Type C , Diagnosis , Genetics , TherapeuticsABSTRACT
@#ObjectiveTo evaluate the efficacy of rehabilitation associated with local intramuscular injection of botulinum toxic A (BTX-A) on spastic cerebral palsy (CP).Methods60 children with spastic CP were divided into experimental group and control group with 30 cases in each group. Cases of experimental group were treated with rehabilitation associated with local intramuscular injection of BTX-A. Cases of control group were treated only with rehabilitation treatment. The therapeutic efficacies of two groups were evaluated with physician rating scale (PRS) and activities of daily living (ADL) evaluation systems.ResultsImprovement of clinical evaluations index-PRS and ADL in experimental group was much more significant than that of control group (P<0.05). ConclusionRehabilitation associated with local intramuscular injection of BTX-A can improve the efficacy of spastic CP.
ABSTRACT
The treatment of cerebral palsy is still a big medical problem.The pathogenesis of spasticity,as result of a variety of lesions of the cerebral cortex,brain stem,spinal cord,is caused by involvement of the inhibitory pyramidal and parapyramidal descending tracts terminating on the spinal facilitatory myotatic reflex.A lesion of the descending tracts disturbs this equilibrium leading to spasticity,which is cha-racterized by muscle resistance at rest that is velocity dependent and associated with an increase in tonic stretch reflexes resulting from hype-rexcitability of the stretch reflex.Spasticity caused abnomal posture,caused special movement,and higher multilation,which affect children's life severely.There are so many ways to lower hypermyotonia,such as:drugs,rehabilitation care,acupuncture and so on.Bioelectric stimulation therapy is a new ways in the zone.Its curative effect and the mechanism are still in explore,this article just to give an overview about bioelectric stimulation therapy in curing spastic cerebral palsy.
ABSTRACT
Objective To observe the curative effect of botulinum toxin A(BTX-A)repeated intramuscular injection for treatment of serious spastic cerebral palsy.Methods Thirty cases with serious spastic cerebral palsy received local repeated intramuscular injection. The interval time was 3 months. The dose of BTX-A was 4 U/kg.The muscle tone was assessed with the modified ashworth scale and range of motion with physical rating scale(PRS).The indexes were evaluated before injection and 3 months after the second injection. Paired-samples t-test was used in the statistic analysis.Result The muscle tone and PRS had remarkable improvement after second therapy with BTX-A(P