As a result, muscle cells are very weak and fragile. DMD occurs primarily in boys but can occur in girls (very rare), and can occur in any race. Symptoms occur in very early childhood, usually before 6 years old. Some signs and symptoms are clumsiness, delayed motor skills, trouble climbing stairs, trouble running, trouble maintaining balance, and enlarged calves. Intellectual disabilities are possible but are not always present, and they do not get worse over time.
Each year duchenne muscular dystrophy affects around 1 in 3500 male births worldwide(1). Duchenne affects patient's whole life since it attacks skeletal system, respiratory system, and in progress stages it may attack the heart(2).The phases of duchenne muscular dystrophy help scientists understand the disease because each phase has its own symptoms. Moreover, each phase attacks specific systems and organs in the patient's body. Duchenne muscular dystrophy develops relentlessly over time, and can be divided into three phases, early phase , transitional phase, and teenager and adult phase(1). The Early phase of duchenne muscular dystrophy begins from the day is diagnosed until the patient is 6 years old(1).Duchenne can by diagnosed through a muscle biopsy, taking a sample
One can only get spinal muscular atrophy only if both of their parents had copies of a defective gene. Furthermore, if the
Therefore, they can be diagnosed by detecting abnormal movements. If the patient diagnosed with rigidity that causes a condition of stiffness, inflexibility, and resistance to the muscle motion, it means that the patient has HD. The patient is diagnosed with PD only if chorea, a symptom where the patient experience involuntary movements and rapid motion, is observed. In short, PD and HD are progressive diseases that share the same general characteristics, but if studied closely many remarkable differences can be
There are some cases where the disease can either be autosomal recessive or X-linked, but these are less common.1 ALS is a disease that affects motor neurons, eventually causing muscles to become weakened to the point of not being usable and breathing becomes increasingly difficult. Individuals with this disease lose the ability to walk, have difficulty chewing or swallowing, lose mobility of other muscles, and gain difficulty in breathing. Their muscles often become thinner due to atrophy. Symptoms of ALS do not typically develop until the person affected is
Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist Guillaume Duchenne gave a comprehensive account of thirteen boys with the most common and severe form of the disease, which now carries his name—Duchenne muscular dystrophy.
Rett’s Syndrome Kelsey Leroux Child Development CYC 101 Lenore Simbulan October 14, 2016 Rett’s Syndrome Rett’s syndrome is defined by the Ontario Rett’s Syndrome Association (ORSA) as “a neurodevelopmental condition characterized by the loss of the spoken language and hand use, coupled with the development of distinctive hand stereotypies… It is usually caused by a mutation of the MECP2 gene on the x chromosome” (2016). Rett’s syndrome is considered by medical experts as a rare genetic neurological and developmental disorder that affects the way the brain develops causing a progressive inability to use muscles for speech, and eye and body movements. Most babies seem to develop normally until about six to eighteen months old. Rett’s
Because the muscle cell division and gradually lost, resulting in progressive muscle weakness. Duchenne muscular dystrophy type only affects boys. According to the article, Duchenne muscular dystrophy is caused by an X-linked gene, That is, this gene is on the X-chromosome; Children have two such genes, while the boys are only one That is to say, only the boy will be affected by this disease, but their mothers may be carriers. In fact, at present Nearly half of all sick boys are shown to have this, Defective genes are due to genetic alterations or occur in boys themselves Mutations caused by other family members did not carry
The results fitted nicely with the author’s hypothesis, showing PGC-1α gene transfer was able to control and enhance dystrophin-deficient muscle functioning. Despite successful results, the authors have noted contradicting findings such as increased inflammation in the treated limbs. Little explanation was given as to why and whether it could affect the muscle in the long run, so more elaboration is needed. Overall, the study was well-designed with results to support the hypothesis of this potential treatment for DMD to mitigate symptoms and restore muscle
Although there will certainly be symptoms experienced, the severity of them can vary depending on the person affected. Usually, the first symptom is loss of balance and coordination. The effect that the disease has on the legs and torso can cause frequent falls as well as unsteady walking. Muscles in the legs become weak over the years, causing the action of walking to become an extremely difficult task. Later, the tongue, as well as other facial muscles, become weak making it hard to speak or swallow food.
Another example would be spina bifida; where the child’s legs may be partially or fully paralysed and they may have problems controlling their bowel and bladder. Physical disabilities can prevent children taking part in some physical activities, thus impairing their physical development and ultimately their social interactions in the playground or during group work. This in turn can affect confidence and their ability to interact with their
To add to this it is also a degenerative disease so the person knows that most likely it will just get worse as time goes on and this can be quite daunting. Friends and family will also have to accept this, but at the same time will have to be supportive to the affected person to create a positive environment and this is a big challenge in itself. With CADASIL being a genetically inherited disease there will always be a chance of passing it on to offspring if an affected person were to reproduce. This is a very big decision for the patient if they wanted to have a child as no parent would want their child to go through the physical and mental pains of CADASIL, but on the other hand the child may not inherit
This disease mainly attacks the motor neurons in the brain, causing them to die. When motor neurons die, the ability of the brain to initiate and control muscle movement is lost. Voluntary movement is heavily affected; voluntary muscle movement can be as simple as shrugging your shoulders, or as major as swallowing, speaking, or breathing. ALS can usually strike a person from the ages of 40 to 70, and after being diagnosed, the average life expectancy is about five years. The disease may vary in different cases, the famous Hall of Fame baseball player, Lou Gehrig was diagnosed at age 39 and died a mere two years later.
Marfan syndrome is a genetically inherited disorder that affects the human connective tissue. Connective tissue is the material present between the cells of the body, thus giving strength and flexibility to the body. Since connective tissue is found all over the body, multiple organ systems are affected. Marfan syndrome is an autosomal dominant genetic disorder, where abnormality in the gene causes a myriad of clinical features mainly affecting the skeletal system- bones and muscle, cardiovascular system-heart and blood vessels and the ocular system.