Gaucher Disease Summary

The gabapentinoids, gabapentin and pregabalin are increasingly prescribed for a variety of conditions by medical practitioners from family physicians, neurologists, rheumatologists, orthopaedic surgeons, and others. The indications may vary according to the countries these medications are marketed in. Some of the indications include neuropathic pain, fibromyalgia, generalised anxiety disorder, epilepsy and so on.1

Preferred treatment for GAD includes medication and cognitive behavioral therapy, but more extensive therapy may be called upon in some instances of recurrence or

Fifth Disease also known as Erythema Infectious is a viral illness caused by the parvovirus B19. It is more common in children ranging from five to fifteen years of age than it is in adults. Most children will recover quickly without having any long lasting complications. Individuals may recognize the disease by the distinctive red rash that appears on the face that resembles a slapped cheek. Fifth disease has an incubation period ranging from four to fourteen days, however it can last as long as twenty days. Did you know that fifth disease gets its name for being listed number five on the list of historical classifications of common skin rash illnesses in children?

Erythema Infectiosum is called fifth disease. It is a mild illness caused by a virus. This virus most commonly occurs in children. The disease usually causes a bright red rash that appears on both cheeks. The rash has a "slapped cheek" appearance. Before the rash, the patient usually has a low-grade fever, mild upper respiratory symptoms, and a headache. One to three days after the cheek rash appears, a pink, lacy rash appears on the body, arms, and legs. This rash may come and go for up to 5 weeks. It often gets brighter following warm baths, exercise, and sun exposure. Your child may have no other symptoms or only a slight runny nose, sore throat, and very low fever. Complications are rare. This illness is quite

Progeria is the World’s leading cause of children death because, Progeria is a fast-paced disease the disease has many symptoms and signs, and the treatments are very minimal. This disease is the saddest disease i have seen or heard of in years.

Gaucher disease (GD) is an inherited gene that stops glucocerebroside (type of lipid) to be broken down correctly. When this lipid cannot be broken down, buildups appear in the liver, spleen, and bone marrow which affects normal functioning. These organs begin to grow to an irregular size, amenia becomes present within the patient, and easy bruising appears due to the decrease in blood platelets. Gaucher disease is created during an autosomal recessive pattern, which means that two genes have a mutation, which causes the disorder. Normally, if a child is born with this disease, both parents carry one copy of the mutated gene. The gene that the mutation appears in is the GBA gene. GBA is located in chromosome one. The GBA gene is in charge of creating the instructions for producing an enzyme called beta-glucocerebrosidase. This enzyme breaks down the glucocerebroside into glucose and ceramide (a simpler fat molecule). When mutations appear in the GBA gene, the activity of the beta-glucocerebrosidase is reduced abundantly. Without this important breaking down of the

Fabry Disease occurs due to a disorder in the lysosomes. Lysosomes typically serve as recycling centers within cells; they contain enzymes to digest several different molecules. In Fabry Disease, the affected individual has a mutation in the GLA gene. The GLA gene provides code to produce alpha-galactosidase A. Alpha-galactosidase A is an active enzyme in lysosomes to break down globotriaosylceramide, a fat consisting three sugars attached to a fatty substance. The mutation in the GLA gene can cause an absence or decrease in the amount of alpha-galactosidase A produced. This change in the amount of enzyme produced prevents breakdown of the fat effectively and the fat begins to build up in excess inside the cells. The accumulation of globotriaosylceramide then damages cells and leads to the symptoms seen in Fabry Disease.

Guillain-Barre Syndrome (GBS) is a rare autoimmune disease. This is where an individual’s own immune system attacks and destroy healthy body tissue. The exact cause of this syndrome is unknown. However, once triggered the immune system begins to attack the myelin sheath in the brain, particularly, your peripheral nervous system (PNS). The PNS connects the brain and spinal cord (central nervous system – CNS) to the rest of the body. The myelin sheath main function is to ensure fast propagation of nerve impulses. When damaged it can often result in muscle weakness or paralysis.

but medicine and therapy can help to slow the disease down from progressing and lower the pain of symptoms(Frey 742;Alan;Jacoby 1142). Medicine such as Interferon betas and immunosuppressives are used to slow the progression down(Alan;HDC 1133-1134). Corticosteroids are taken to help reduce the inflammation during active phases(Frey 742;Alan; Jacoby 1142; HDC 1133-1134). Spasticity can be treated with Muscle relaxants(Frey 742; Alan; HDC 1133-1134). In this case Botox injections can help reduce some symptoms( Alan; MSHC).Therapies can also be another huge factor to decrease the progression. Therapies include speech therapy, occupational therapy ,and massage therapy(Frey;741-742;Alan).There are tons of other medications and therapies

Jeune syndrome is a rare inherited disease that has a significant impact on infants and small children. As a result of this disease infants with this condition usually experiences difficulty breathing, kidney abnormalities, and other life threatening issues. Antenatal examination is possible by ultrasound but specific diagnosis is difficult and seemingly impossible. Individuals are diagnosed at birth after careful observation of the limbs and chest area. Patients usually die from respiratory failure because of a very small chest and repeated respiratory infections (Phillips and Van Aalst 2008). There is not a lot that can be done for patients with Jeune syndrome because scientists are still in the process of obtaining knowledge about the initial cause and ways to prevent the mutation (Phillips and Van Aalst 2008). It is understood that because this is autosomal recessive disease, meaning both parents must be carriers.

Griscelli syndrome is an extremely rare autosomal recessive disease characterized by pigmentary abnormalities in the skin and hair. The first case of Griscelli syndrome was described by Claude Griscelli, a professor of pediatric medicine, in a hospital in Paris, France in 1978. Griscelli syndrome has an unknown frequency, however, it is estimated to occur in less than one per million. Griscelli syndrome usually presents in early childhood, between the ages of four months and seven years, and will almost certainly result in death during early childhood, if left untreated (Cheng, 2015). The majority of Griscelli syndrome cases have been found to occur, for unspecified reasons, in the Turkish and Mediterranean populations and as of September,

Another disease explained is G6PD deficiency is a hereditary enzyme disease. Also known as favism, signs of G6PD deficiency are yellowing of the skin, dark urine, fatigue, rapid breathing, and a weak, fast pulse. G6PD - an acronym for glucose-6-phosphate dehydrogenase - is found to be in every cell, and is a necessary component in red blood cells for protection. The function of the G6PD is to prevent free radicals, an atom with unpaired electrons, from killing red blood cells by eliminating them. Thus, to have G6PD deficiency means that red blood cells are vulnerable to free radicals, and the patient is prone to hemolytic anemia: when red blood cells die off too quickly, and the body is unable to produce them fast enough to replace them. If

One of the main therapeutic approaches to Type 1 Gaucher disease is enzyme replacement therapy (ERT) , which has been shown in many studies its advantage to ameliorate a variety of signs and symptoms of type 1 Gaucher disease. Its aim is to supply the proper amount of enzyme to permit surplus material to be degenerated. Thus, ERT works by the supplement or replacement of the Gaucher patient’s enzymatic absence or deficiency. Conditions or symptoms related to the central nervous system in Types 2 and 3 Gaucher disease, since ERT does not cross the blood brain barrier.

progressive neurological dysfunction. Curvature of the spine, muscle coordination impairment (ataxia), and eye problems including pigmentary retinal degeneration beginning at about ten years of age may also be symptomatic of Acanthocytosis.

     Future treatments for the disease are as follows. In the future people may be able to inhale insulin rather than take painful injections. There are also