Recognize Duchenne Muscular Dystrophy Better

Duchenne muscular dystrophy (DMD) is a progressive, progressive, and hereditary muscular dystrophy about boys. The incidence of the disease is relatively rare, only amounted to one of 3500 male births. The disease is passed down through X-linked recessive, and only about men, while women are just as career. In the DMD there is a genetic disorder that lies on the X chromosome, locus Xp21.22-4 which is responsible for the formation of the dystrophin protein. Pathologic changes in dystrophic muscles occur primarily and are not caused by secondary disease due to central nervous system or peripheral nervous disorders.

Distrofin is a very long protein with a molecular weight of 427 kDa2.4, and consists of 3685 acids amino.2 The main cause of degenerative processes in most DMDs due to deletions on the segment of the gene in charge answer to the formation of dystrophin proteins in the membrane muscle cells, resulting in the absence of such proteins
in muscle tissue. 2 Erb2.5 in 1884 for the first time wearing term dystrophia muscularis progressiva. In the year of 1855, Duchenne2.5 provides a more complete description on progressive muscular atrophy in children. Becker 2 describes a muscular dystrophy disease that can derived autosomal recessive, autosomal dominant or X-linked recessive.2,6 Hoffman et al2.5 explains that Dystrophin protein disorders are a major cause of DMD and Becker Muscular Dystrophy (BMD).

DMD can attack everyone of all ages. Although some are first in infants or children, others may not appear until middle age.

The most common symptoms are muscle weakness (frequent falls, walking disturbances, drowsy eyelids), skeletal and muscle disorders. Neurological examination often finds loss of muscle tissue (wasting), muscle contractures, pseudohypertrophy and weakness. Some types of DMD may arise with additional cardiac abnormalities, intellectual impairment and sterility. Here are the symptoms that can be found:

o Progressive muscle weakness
o Impaired balance
o Often falling
o Difficulty walking
o Waddling Gait
o Calf Pain
o Limited range of motion
o Muscle contractures
o Respiratory disorders
o Ptosis
o Gonad atrophy
o Scoliosis
o Some types of MD can attack the heart, causing cardiomyopathy or arttmia

What are my treatment options for muscular dystrophy (muscular dystrophy)?

No known drugs have been found to cure MD disease. The goal of treatment is simply to control the symptoms. The treatments consist of:

Physical therapy
Surgery on the spine or leg (in some cases)
Use of support aids, sticks, walking aids, and wheelchairs can help mobility and reduce dependence on others
Drugs corticosteroids are sometimes prescribed for children with certain MD disease to help them stay as long as possible

Comments

What is Three Parts of Nucleotide ?

What is Three Parts of Nucleotide ? Nucleotides are biological molecules that form the building blocks of nucleic acids (DNA and RNA) and serve to carry packets of energy within the cell (ATP). In the form of the nucleoside triphosphates (ATP, GTP, CTP and UTP), nucleotides play central roles in metabolism. In addition, nucleotides participate in cell signaling (cGMP and cAMP), and are incorporated into important cofactors of enzymatic reactions (e.g. coenzyme A, FAD, FMN, NAD, and NADP+). A nucleotide is composed of a nucleobase (nitrogenous base), a five-carbon sugar (either ribose or 2-deoxyribose), and one or more phosphate groups. Three parts of nucleotide image That are three parts of nucleotide, Nucleotides can be synthesized by a variety of means both in vitro and in vivo. There a 4 different nucleotides ATP,GTP (purines) TTP,CTP (pyrimidines) which differ in the chemical structure of the base. They are generally referred by a single letter A, G, T,C. UTP

The Noonan Syndrome Characteristics You Must Know

Noonan Syndrome is a genetic disorder that impedes normal development in various parts of the body. A child can be stricken with Noonan syndrome in a variety of ways: unusual facial characteristics, short stature heart defect, other physical problems, and sometimes mental retardation. Noonan syndrome is caused by a genetic mutation and are obtained when a child inherits a copy of the affected genes from the parents. It can also occur as a spontaneous mutation in children, which means there is no family history involved. The characteristics of children with Noonan Syndrome, among others: 1. Characteristics of the face -Early childhood. An infant with age less than 1 month seems lowly ears, short neck and at the back of the head low hairline -Childhood. Children have eyes stand out with the slope down and the nose is wide and round. Often seen the lack of facial expression. -Teens. At adolescence, her face is wide, usually the facial features become sharper and less promine

Why Patau Syndrome or Known as Trisomy 13

Trisomy 13 or Patau Syndrome is the most severe viable trisomy caused by an additional copy of chromosome 13 that usually causes a host of developmental problems and physical deformities in a newborn. Patau syndrome is generally recognized at birth by the presence of structural birth defects and poor neurologic performance. Additional structural anomalies are common, particularly facial anomalies (midline clefts, hypotelorism, microphthalmia, and anophthalmia) arising from structural anomalies of the brain, frequently microcephaly and holoprosencephaly. Other associated anomalies include cardiac, renal, and intestinal (diaphragmatic hernia) anomalies. Characteristic features include low set ears, post-axial polydactyly, flexion contractures, rocker bottom feet, scalp defects, and haemangiomas. What is the cause of Patau Syndrome ? The exact incidence of Patau syndrome is not known, although it appears to affect females more than males, most likely because male fetuses do not

DNA and RNA

Search This Blog