Wednesday, April 29, 2009

Isaac's Syndrome

Disease: Isaac's Syndrome

Common Name: Isaac's Syndrome, neuromyotonia, Isaac-Mertens syndrome, continuous muscle fiber activity syndrome, or quantal squander syndrome

Age of Onset: Onset is between ages 15 and 60, with most individuals experiencing symptoms before age 40

Duration: chronic once acquired

Does not have a commonality between males/females or ethnic group

Cause: Isaac's Syndrome can be hereditary as well as being acquired but has unknown causes. The acquired form occasionally develops together with peripheral neuropathies or after radiation treatment, but it is more often caused by an autoimmune condition. Autoimmune-mediated Isaac's syndrome is usually caused by antibodies that bind to potassium channels on the motor nerve. Isaac's syndrome is only one of several neurological conditions that can be caused by potassium channel antibodies.

Symptoms and Prognosis: progressive muscle stiffness, continuously contracting or twitching muscles, cramping, increased sweating, and delayed muscle relaxation, occur even during sleep or when individuals are under general anesthesia. Many people also develop weakened reflexes and muscle pain, but numbness is relatively uncommon. In most people with Isaac's syndrome, stiffness is most prominent in limb and trunk muscles, although symptoms can be limited to cranial muscles. Speech and breathing may be affected if pharyngeal or laryngeal muscles are involved. There is no cure for Isaac's syndrome. The long-term prognosis for individuals with the disorder is uncertain.

Treatment Options: Anticonvulsants, including phenytoin and carbamazepine, usually provide significant relief from the stiffness, muscle spasms, and pain associated with Isaac's syndrome. Plasma exchange may provide short-term relief for individuals with some forms of the acquired disorder.

Reasearch Being Done: The NINDS supports an extensive research program of basic studies to increase understanding of diseases that affect the brain, spinal cord, muscles, and nerves. This research examines the genetics, symptoms, progression, and psychological and behavioral impact of diseases, with the goal of improving ways to diagnose, treat, and, ultimately, cure these disorders.





Monday, April 27, 2009

Parkinson's Disease

Disease: Parkinson's Disease

Common Name: Parkinson's Disease

Age of Onset: no specific age of onset. can occur at any age

Duration: once you have been diagnosed with the disease it is with you forever

Cause: Most people with Parkinson's disease are described as having idiopathic Parkinson's disease which means having no specific known cause. A small minority of people who have Parkinson's have acquired it through genetics. There is also the theory that, the combination of genetic vulnerability and the exposure to certain toxins can be the cause of the disease. These toxins include, but are not limited to chemicals present in certain pesticides and transition metals such as manganese or iron and certain reactive oxygen species that bind to neuromelanin. There was also a group of drug addicts in California in the early 1980s who consumed a contaminated and illicitly produced batch of the synthetic opiate MPPP brought to light MPTP (pro-toxin N-methyl-4-phenyl-1,2,3,6-tetrahydropyidine) as a specific cause of Parkinson symptoms. There was also a study that showed that those who have experienced a head injury are four times more likely to develop Parkinson’s disease than those who have never suffered a head injury.

Symptoms: Motor Symptoms
  • Tremor: normally 4–6 Hz tremor, maximal when the limb is at rest, and decreased with voluntary movement. This is the most apparent and well-known symptom, though only about 30% of patients have little perceptible tremor; these are classified as akinetic-rigid.
  • Rigidity: stiffness; increased muscle tone.
  • absence of movement and slowness, respectively. Rapid, repetitive movements produce a dysrhythimic and decremental loss of amplitude
  • Postural instability: failure of postural refliexes which leads to impaired balance and falls.
  • Gait and posture disturbances:
    • Shuffling: gait is characterized by short steps, with feet barely leaving the ground,
    • Decreased arm-swing.
    • Stooped, forward-flexed posture. In severe forms, the head and upper shoulders may be bent at a right angle relative to the trunk (camptocormia).
    • Festination: a combination of stooped posture, imbalance, and short steps.
    • Gait freezing: "freezing" is a manifestation of akinesia (an inability to move). Gait freezing is characterized by an inability to move the feet which may worsen in tight, cluttered spaces or when attempting to initiate gait.
  • Speech and swallowing disturbances.
    • Hypophonia: soft speech. Speech quality tends to be soft, hoarse, and monotonous. Some people with Parkinson's disease claim that their tongue is "heavy"
    • Festinating speech: excessively rapid, soft, poorly-intelligible speech.
    • Drooling: most likely caused by a weak, infrequent swallow and stooped posture.
  • Fatigue (up to 50% of cases);
    • Masked faces with infrequent blinking
    • Difficulty rolling in bed or rising from a seated position;
    • Akathisia, the inability to sit still.
Progression: there is no specific order of the progression of symptoms for Parkinson's disease. in the beginning your motor skills begin to deteriotate and degenerate and then everything seems to go downhill from there

Treatment Options: There is no cure for Parkinson’s disease; however, there are several medications available to treat the symptoms of the disease. there is Levodopa/Carbidopa (Sinemet), Dopamine agonists, Monoamine oxidase inhibitors. there is also the option of surgery but that is only to help with the symptoms. the only other help for the disease is physical therapy, excersize, and group wellness meetings.