Neurofibromatosis Type II: The main manifestation of the disease is the development of symmetric, non-malignant brain tumors in the region of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain. Most people with this condition also have visual problems. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. The underlying disorder does not have any therapy due to the cell function caused by the genetic mutation (Striedinger et al., 2008). NF2 is inherited as an autosomal dominant condition, although half of affected patients have NF2 as a result of (de novo) gene mutation. Affected individuals need only 1 mutated or deleted NF2 gene to appear the signs of the condition (Beltrami …show more content…
Indeed, the first sign of more severe multi-tumour disease in early childhood is often a non-8th nerve tumour (including a cutaneous tumour), or an ocular presentation. Adult presentation is different than paediatric presentation, in which VS accounts for as little as 15–30% of initial symptoms. There also appears to be a tendency to mononeuropathy, particularly affecting the facial nerve causing a Bell's-like palsy, which does not fully recover years before the detection of a VS. Some children present with a polio-like illness with wasting of muscle groups in a lower limb, which again does not fully recover. In adulthood, a more generalised symptomtatic severe polyneuropathy occurs in about 3–5% of patients, often associated with an "onion bulb" appearance on nerve biopsy. This can progress, leading to severe muscle wasting and even death. However, around 40% of patients will show evidence of polyneuropathy on nerve conduction studies (Sperfeld et al.,
The abnormal accumulation of GM2 gangliosides in the neurons of the brain and spinal cord cause the neurons to slowly die, leading to the death of the individual. Infantile Tay-Sachs symptoms do not appear in the body until 3 to 6 months of age, but the destructive process had begun early in the pregnancy, leading to the general death around the age of 4. Juvenile Tay-Sachs symptoms begin to appear around 2 to 10 years of age, but despite the milder effects of the disease the destructive aspects of the disease have been at work since early on in the pregnancy, causing death to generally occur around the age of 15. Late Onset Tay-Sachs symptoms appear between adolescence and mid 30s, but does not have an average age of death. Due to the milder symptoms of the disease some individuals life expectancy may not be affected, but cases of Late Onset Tay-Sachs
The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints between certain bones of the skull, unusually flat, underdeveloped midfacial regions abnormally broad great toes, and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited. Mutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called
Symptoms: Up to the age of 1-3 years, affected boys have normal muscles that is they learn to stand and walk later than they are supposed to do and speech may be slow in development. Gowers sign is a sign that can be seen in boys. Hypertrophy of the calf muscles is also a characteristic sign of DMD (Alan E H Emery., 1998). Contractures at the knees and elbows are common and it will lead most boys to use wheelchairs by the age of 10, and end them dead before or at the age of 20. The commonest cause of death is cardiac muscles involvement that will lead to cardiac faliure and subsequentl to respiratory failure (Pryse-Phillips, William E. M. and Murray, T. J., “ A concise textbook Essential Neurology”. 4th ...
While it is rare to have a diagnosis in children younger than 12 years of age, it does happen. Average age of onse...
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Chronic illness can be very difficult to manage. Cystic fibrosis is the most common life-limiting autosomal (not sex-linked) recessive disease among Caucasian heritage. Although technically a rare disease, it is ranked as one of the most wide spread life-shortening genetic diseases. It is most common among nations in the Western world minus the exception of Finland but it is equally diagnosed between male and female.
... damaged neurons. (Mayo clinic, 2014). This is called neuroplasticity, the ability for the nerves to compensate for damage caused by some outside force. Because of neuroplasticity physical training works to cure some of the paralysis left by the virus and allows us to walk again after the legs or another appendage is deformed or damaged.
A hypothesis that can be made from the patient’s report is that she is suffering from cervical radiculopathy, or a nerve root lesion. Symptoms that describe cervical radiculopathy include: arm pain in a dermatome distribution, pain increased by extension, rotation, and/or side flexion, possible relief of pain from arm positioned overhead, affected sensation, altered hand function, no spasticity, and no change to gait or bowel and bladder function (Magee, 2008, p. 142). These symptoms correlate to what the patient reported as a result of her injury. She stated that her pain is in the posterolateral upper and lower arm with aching and paresthesia in the thumb and index finger, which is in the dermatome pattern of cervical root 5 and 6 (C5, C6) (Magee, 2008, p. 25). She also reports lancinating pain with extension or rotation to the right of her head.
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
The name of each condition describes the location and severity of the paralyzed muscles. The first type is Spinal paralytic polio. This is the most common type of the three, it is caused by an infection in the spinal cord. It leaves its victims crippled, producing paralysis in the arms and/or legs. The legs are usually affected more than arms. The second type is Respiratory polio. The polio virus attacks the respiratory or chest muscles, making it difficult or impossible for the patient to breathe without help from a breathing machine. This condition is very dangerous, and may result in death in as much as fifty percent of its victims. The a third type is Bulbar polio. The polio virus attacks the nerve cells that are found just above the spinal cord in the region called the “bulb” or brain stem. These nerve cells control the pharynx (throat) and larynx (voice box) muscles. When these areas are affected, the patient may have serious problems breathing, swallowing, and speaking. This is the most dangerous form of polio. Secretions collect in the throat and may block the airway (trachea), which may cause the patient to suffocate (Polio
When a person begins to suffer from Guillain- Barre Syndrome their myelin sheath of their nervous system is being attacked and destroyed by the immune system (NINDS, 2011). The myelin sheath begins to lose its ability to transmit signals rapidly and affectively. Since signals are not getting transmitted to the brain fast enough, a person begins to notice fewer sensory responses from the rest of the body (NINDS, 2011). A person wouldn’t be able to tell right away or at all if an item they are touching is hot, cold, or causing pain. There also wouldn’t be good signal transmission from the brain to the rest of the body (NINDS, 2011). There would be signs of the muscles being unable to respond to the weakened or distraught signals they were receiving. Since the myelin sheath is responsible for transmitting the signals from a long distance, the upper and lower extremities would be the first to show signs of muscle dysfunction.
What causes Bell’s palsy is not clear, but some experts believe it is linked to the herpes simplex virus, that causes cold sores or Influenza. Many health problems can cause weakness or paralysis of the face. This is a form of cranial mononeuropathy VII, which is the 7th cranial facial nerve and the nerve controls the movement of the face. Bell’s palsy could also be linked to inflammation of the nerve in the area where it travels through the bones of the skull. And other such conditions as diabetes, and Lyme disease the symptoms for Bell’ palsy is as follows.
The most common type is Peripheral Neuropathy. It is also referred to as distal symmetric neuropathy or sensorimotor neuropathy. In this type, the legs, feet, toes, arms, and hands experience pain and loss of sensation. Typically, the lower extremities are involved before the upper extremities and a loss of reflexes is common. It is with this type of neuropathy that ulcers, wounds, infections, and in severe cases, amputations are most common (Dyck, Feldmen, & Vinick).
...urgery, and radiation therapy. Due to the fact that acoustic neuromas grow slowly, immediate treatment may not be necessary so Doctors will monitor the tumor with periodic MRIs and suggest other treatment if the tumor enlarges. Surgery may involve all or part of the tumor. There are three main surgical approaches translabyrinthine, retrosigmoid/sub-occipital, and Middle fossa. There is also a new technique called endoscopic resection which enables surgeons to remove acoustic neuromas using a small camera inserted through a hole in the skull. There are two types of radiation therapy: the first is Single fraction stereotactic radiosurgery (SRS) and Multi-session fractionated stereotactic radiotherapy (FRS), Selecting the right treatment depends on the size of the tumor, whether the tumor is growing. age. other medical conditions you may have and severity of symptoms.
One of the most common mysteries in the world is the development of autoimmune diseases. An autoimmune disease is when the immune system, which usually keeps your body healthy thinks that your healthy cells are antigens and attacks them. This is irony right? It is against properties of evolution for an immune system to attack itself causing sickness and possibly death if untreated. There are about 80 different types of autoimmune diseases, which usually have periods of little to no symptoms and worsening symptoms. What particularly creates confusion in the world is the autoimmune disease, inflammatory bowel disease, which affects almost about five million people worldwide.