Globus pallidus internus deep brain stimulation is the preferred surgical procedure, due to the lower frequency of side effects. Advantages of deep brain stimulation include the reversibility of the procedure, and the ability to adjust the settings of the stimulation.In one study, patients who had developed immunoresistance to botulinum toxin underwent globus pallidus internus deep brain stimulation, showing improvement by 54.4% after three to six months.There is a low rate of side effects for those who undergo deep brain stimulation. The most common side effect is headache, occurring in 15% of patients, followed by infection (4.4%) and cognitive dysfunction (4%). Serious side effects are seizure (1.2%), intracerebral hemorrhage (0.6%), intraventricular hemorrhage (0.6%), and large subdural hematoma (0.3%). Physical Interventions
Physical treatment options for cervical dystonia include biofeedback, mechanical braces as well as patients self-performing a geste antagoniste. Physical therapy also has an important role in managing spasmodic torticollis by providing stretching and strengthening exercises to aid the patient in keeping their head in proper alignment with their body. Patients with cervical dystonia ranked physical therapy intervention second to botulinum toxin injections in overall effectiveness in reducing symptoms and patients receiving physiotherapy in conjunction with botulinum toxin injections reported enhanced effects of treatment compared to the injections alone. One study examined patients with cervical dystonia who were treated with a physiotherapy program that included muscle stretching and relaxation, balance and coordination training, and exercises for muscle strengthening and endurance.
α-Galactosidase ( EC 3.2.1.22, α-GAL, α-GAL A; systematic name α-D-galactoside galactohydrolase) is a glycoside hydrolase enzyme that catalyses the following reaction:
Hydrolysis of terminal, non-reducing α-D-galactose residues in α-D-galactosides, including galactose oligosaccharides, galactomannans and galactolipidsIt catalyzes many catabolic processes, including cleavage of glycoproteins, glycolipids, and polysaccharides. The enzyme is encoded by the GLA gene. Two recombinant forms of human α-galactosidase are called agalsidase α (INN) and agalsidase β (INN). A mold-derived form is the primary ingredient in gas relief supplements. Function
This enzyme is a homodimeric glycoprotein that hydrolyses the terminal α-galactosyl moieties from glycolipids and glycoproteins. It predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. Reaction mechanism
Disease relevance
Fabry disease
Signs and Symptoms
Defects in human α-GAL result in Fabry disease, a rare lysosomal storage disorder and sphingolipidosis that results from a failure to catabolize α-D-galactosyl glycolipid moieties. Characteristic features include episodes of pain in hands and feet (acroparesthesia), dark red spots on skin (angiokeratoma), decreased sweating (hypohidrosis), decreased vision (corneal opacity), gastrointestinal problems, hearing loss, tinnitus, etc.. Complications for this disease can be life-threatening and may include progressive kidney damage, heart attack, and stroke. This disease may have late onset and only affect the heart or kidneys.Fabry disease is an X-linked disease, affecting 1 in 40,000 males. However, unlike other X-linked diseases, this condition also creates significant medical problems for females carrying only 1 copy of the defective GLA gene. These women may experience many classic symptoms of the disorder including cardiac and kidney problems.