A physical examination reveals the following: leonine facies; loss of eyebrows and eyelashes; nodules on the sclera; a depressed nasal bridge; adipose fat deposits in the breast; testicular atrophy; many symmetrical, flat, discolored areas on the skin without defined borders; numerous nodules & broad, raised areas on the skin; partial loss of pinprick and temperature sensation; no anhidrotic changes; symmetrically enlarged ulnar and common peroneal nerves.…
- caused by a MECP2 mutation. This gene is found on a person’s X chromosome…
The coin-sized patches are mainly observed in this type of hair loss disease leading to the baldness over the scalp, eyebrows, eyelashes, & beard.…
2. Hypertrichosis excessive hair on the shoulders, face and ears; implicate it to a rearrangement of chromosome 8.…
Alopecia areata is an autoimmune disorder which is suddenly loss of hair ranges from random patches in scalp to entire body. Alopecia areata affects both female and male at any age. Whereas there are many treatments available, it is an incurable illness. Also, Alopecia areata may recurrence after treatment. In some patients, hair regrowth back, but some patients experience hair falls and others remains. Each cases is unique. Alopecia areata does not produce physical pain. However, the cosmetic impacts of alopecia can instigate emotional distress. This assay present a definition of Alopecia areata based on its symptoms, causes, treatments.…
Duchenne muscular dystrophy or DMD for short is a mutation that happens in the genes. Duchenne is mostly found in boys and rarely found in girls. Duchenne can be inherited in an x-linked fashion. The symptoms usually appear before the age of 6. Sometimes symptoms can start as early as infancy. Not all symptoms happen at one the first symptom is a usual delay of motor milestones such as using muscles to sit up, walk and stand alone. Calf muscles enlarge, this is also known as false enlargement. The enlarged calf muscle…
As stated before this disorder has genetic origins as it is transmitted by parents to the children; that’s why it is called X-linked Adrenoleukodystrophy or X-ALD. It only affects males while females are carriers with the chance of develop a mild form of this disorder. As a neurological condition, we could say that…
Noonan Syndrome is a genetic disorder that causes a person not to develop properly in various areas of the body. These defects can occur in different areas, such as facial characteristics, heart defects, short stature, development delays and skeletal malformation. Symptoms from those areas can cause a person to have abroad or webbed neck, minor eye problems, abnormal bleeding, an unusual chest shape, which is often seen at birth, and late puberty particularly in males. Many males with Noonan Syndrome suffer from cryptorchidism, due to late puberty which occurs at ages 14-15. Women with this disorder have more complications, when menstruating due to excessive bleeding. Noonan syndrome occurs when changes…
Duchenne Muscular Dystrophy is “an X-linked disease of muscle caused by an absence of the protein dystrophin” (Dr. Sussman). The disease affects young boys. If a boy…
As previously mentioned, this disorder is a part of the larger group of Ichthyosis disorders. Some forms of Ichthyosis can be contracted due to the recipient’s environment. However, Harlequin is spread genetically. Males have a higher chance of contracting the disorder, since it is present in the X chromosome. Sometimes, a female’s second X chromosome can take over, and keep the body functioning normally. However, with a male’s XY chromosome makeup, the body is not able to replace the infected gene, causing the person to be infected with Harlequin Ichthyosis (DermNet NZ, 2003).…
The common signs and symptoms in the early stage of Krabbe Disease are; feeding difficulties, extreme irritability, declined alertness, muscle spasms, excessive crying, fever with no sign of an infection, loss of head control, frequent vomiting and delays in normal development. As the disease progresses over time, the symptoms become more intense; increased loss of hearing and sight, seizures, a stiff, fixed posture, increased loss of ability to breathe and swallow, stiff muscles and loss of developmental abilities---Krabbe disease mainly occurs in individuals within the first six months of life, which is early infantile Krabbe disease. This type is the most severe and infants are vulnerable. Later Onset Infantile Krabbe disease is the second…
Krabbe disease is a disorder inherited from parents, which destroys the myelin coat of nerve cells throughout the nervous system and the process is called demyelination. Demyelination inhibits the transmission of nerve impulses and that hinders the communication of the brain and the body and that results in disability (Mayo Foundation for Medical Education and Research, 2016). Dr. Knud. H.Krabbe diagnosed this disorder in 1916 (Arizona Board of Regents, 2015). Krabbe disease is a body recessive disorder that results from lack of enzyme galactorebrosidase or simply GALC, which is necessary to break down and metabolize toxic substances in nerve tissues (YouTube, 2016). A lack in GALC results in toxic built-up for example psychosine which is a destructive toxin that accumulates in the brain, as it begins to build-up in the nerve tissue it destroys the myelin sheath which covers the nerves (YouTube, 20160.…
Another variation of this disease is Adrenomyelopathy, which comes into effect in the middle age of the affected male. This disease starts with the inability to control urination or urinating at inconsistent times during the day or night. Then the male might have muscle problems or leg stiffness. And due to the loss of the myelin sheaths, the affected male would have problems with their thinking speed and visual memory.…
Lesch Nyhan is a recessive X-linked recessive disorder meaning that is passed from mother to son via the X-chromosome. The disease is characterized by mental retardation, spastic cerebral palsy, renal abnormalities, self-injurious behaviors, and other abnormal neurologic symptoms.…
Lesch Nyhan Syndrome (LNS) was first reported in 1964 by Michael Lesch and William L. Nyhan. It is a rare disorder located on the x chromosome. It is a sex-linked trait, which means that it is passed from mother to son. This condition can be inherited or occur spontaneously as a result of a genetic mutation. It usually appears once in every 100,000 male births. Since the defective gene is recessive, females almost never exhibit symptoms of the disease. However, they can be carriers of the allele.…