qu 29 - suportboy

[ArchivalUser]

BBBB? multivit?

[ArchivalUser]

yes BB

[ArchivalUser]

BB agree,
please discuss what other options are
please justify correct answer and why not other
in that way we learn and will prepare ourself for other qus which may be asked

In this qu
what is central core disease?
limb girdle dystrophy?
nemaline myopathy?

[ArchivalUser]

Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a group of congenital, hereditary neuromuscular disorders that cause muscle weakness, generally nonprogressive, of varying severity. "Myopathy" means "muscle disease," and a biopsy of muscle from a person with nemaline myopathy shows abnormal thread-like rods, called nemaline bodies, in the muscle cells. People with nemaline myopathy (or NM) usually experience delayed motor development and weakness in the arm, leg, trunk, throat, and face muscles. The disorder is often clinically categorized into several groups, including mild (typical), intermediate, severe, and adult-onset; however, these distinctions are somewhat ambiguous, as the categories frequently overlap. Respiratory problems are a primary concern for people with all forms of NM, and though in some severe cases they may threaten life expectancy, aggressive and proactive care allows most individuals to survive and lead active lives.

[ArchivalUser]

for limb girdle dystrophy


http://www.emedicine.com/neuro/topic189.htm

[ArchivalUser]

Central core disease (CCD) is a rare neuromuscular disorder that is most often characterized by weakness in the legs, but occasionally affects other muscles groups. CCD is not progressive. It is occasionally the result of a spontaneous gene mutation, but most of the time it is an inherited disorder. CCD™s inheritance is autosomal dominant, meaning that only one parent needs to pass the defective gene on for an affected person to have the disease. This faulty gene can come from either parent, and it can affect either sex.

CCD gets its name from the abnormal cores that are found in the muscle cells and run the length of the muscle fiber. Visible only under a microscope, these cores appear empty, as if there is no metabolic activity. They also lack mitochondria. Responsible for a cell™s energy production, mitochondria are the principal source of energy of a cell. For unknown reasons, however, there is no correlation between the number of fibers with these cores and the severity of the disease. In fact, it has been estimated that as many as 40 percent of those people who have cores found in their muscle cells have no symptoms of CCD.

One possible explanation for the core™s existence is a faulty calcium release mechanism in the cell. Under normal circumstances, when a muscle contracts, the nervous system sends a signal causing a burst of calcium to be released. The calcium stays in the cell long enough to start a contraction and then drains out.

For patients with CCD, calcium leaks into the main part of the cell even when the muscle isn™t contracting. Because of this, there is less calcium available to provide the burst for the contraction. The constant presence of calcium might also destroy the mitochondria, thus creating the "cores."

The most common symptom of CCD is weakness in the legs. This weakness prevents people with the disorder from running or jumping, and makes climbing stairs difficult. The degree of weakness is highly variable, but only in rare cases is CCD disabling. Nevertheless, orthopaedic injuries are not uncommon in CCD, especially hip dislocations, which are due to a lack of muscular development around the hip. Other orthopaedic problems often associated with CCD include scoliosis, foot deformities, and muscle contractures in the knee and hip.

Symptoms of CCD usually begin within the first year of life, and infants often have poor muscle tone (floppiness) and fatigue, easily tiring out even when feeding. As a child with CCD grows, his or her strength builds, but weakness persists, often delaying motor development, such as sitting, by months and walking by a few years.