A 10-year-old boy is seen for evaluation of short stature and tibial deformity. His past medical history is notable for term birth with the following birth parameters: birth weight was 2460 grams (30 ng/ml), elevated alkaline phosphatase level (491 U/L; normal 100-325 U/L), normal calcium and phosphorous levels, and elevated spot urine N-terminal telopeptides (NTx; 574 nM BCE/mM Cr; normal 152-505 nM BCE/mM Cr). Bone mineral density by Dual-energy X-ray absorptiometry (DXA) showed a total body Z-score of -3.4 indicating bone mineral density below normal range. Molecular genetic testing identified a pathogenic mutation in the IFITM5 gene, confirming a diagnosis of osteogenesis imperfecta, type V.…
- It is very rare in the general population. The genetic mutations that cause this disease are more…
A rare disease that is inherited is Tay-Sachs disease. What the disease does is it destroys nerve cells located in the Spinal cord and the brain. The most common type of Tay-Sachs appears in infants. The disease is present early in development but the symptoms usually don’t appear until after the age of 4. Symptoms appear as a slowing or halting of development to include loss of motor skills, seizures, vision and hearing loss. A red spot on the eye referred to as a cherry-red spot is usually found during an eye exam. There is no known cure for Tay-Sachs disease. Children with the disease usually die by age 5.…
Both of these diseases are very severe to the babies, but as medicine has improved their lifespans have increased along with comfortability. With treatment both of these genetic diseases are manageable. In recent research they have found genetic therapy has helped, but the therapy has not yet stuck. It only lasts a few weeks, but it helps symptoms. Scientists are still looking for better treatments. A study conducted by Barrier Therapeutics Inc. of liarozole in Lamellar patients to see the effects, “The drug was well-tolerated across both active treatment arms, and there were no reports of drug-related serious adverse events” (Science Letter, 2007). In some cases of Lamellar Ichthyosis can lead to rickets due to a low vitamin D. Three patients were treated differently to help their symptoms. They were all treated with vitamin D which helped with the rickets, but their skin did not improve without the help of calcipotriene. Calcipotriene is a topical treatment (Pediatrics, 2004). In both diseases, treatments of topical treatments of heavy duty lotion, along with retinoids taken orally, Emollients, Locobase fatty cream, and Oral…
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…
Tay-Sachs disease is a rare inherited autosomal recessive disorder first discovered in 1881. It is a disease that is found in many populations, but commonly affects the populations of the Ashkenazi Jews. The disorder is caused when there is an absence of enzyme called beta hexosaminase A that is found on chromosome 15. The most common mutation occurs in mostly 80 percent of Tay-Sachs patients is the four base pair addition (TATC) on exon 11 and a G to C inversion at the splice junction of intron 12 which leads to a miss spliced and causes the messenger RNA to be unstable; and a G to A inversion on exon 7 of the hexosaminase A gene. The insertion of this base pair causes the codon to stop early which then causes a hexosaminase A deficiency (Amos Frisch). Tay-Sachs is a lethal disease.…
Rickets is the softening and weakening of bones in children also known as Osteomalacia in adults, usually because of a vitamin D deficiency or genetic condition. Vitamin D is what promotes the absorption of calcium and phosphorous from the Gestational Intestines tract. When a person has a vitamin D insufficiency it makes it difficult to maintain proper calcium and phosphorous levels in the bones. There are several different…
Alfred Alder is a psychologist whom was born in Vienna, Austria. As a child, Alfred suffered with Rickets. Rickets is a disease that is caused by a lack of vitamin D, calcium, or phosphate. Rickets leads to the softening and weakening of the bones. Because of Alder having this disease, he was restricted to a wheel chair until the age of four when he was able to walk on his own. Due to Alder having Rickets disease, he was inspired to become a physician. He started his education and soon graduated from the University of Vienna in 1895 with a degree in the medical field. At first, Alder started his medical career in ophthalmology and later switched to general practice.…
Amyotrophic lateral sclerosis; Motor neuron disorders are far from rare: Parkinson’s disease, multiple sclerosis, and a variety of lesser diseases all come under that heading. A disease of the nerve cells in the brain and spinal cord that controls voluntary muscle movement. ALS, Lou Gehrig’s disease, Amyotrophic lateral sclerosis are all names for this horrid disease. The symptoms; Difficulty breathing, sudden paralysis. Treatment is slim to none but there are known medications to help subside the pain that may be felt. The Cause is unknown, doctors are unsure if this disease is genetic or cause by one’s self.…
In children with Tay-Sachs disease, a faulty gene on chromosome 15 (HexA) causes the body to not produce the enzyme B-Hexosaminidase A. This means that the fatty substance (ganglioside) builds up in the brain and spinal cord, significantly damaging brain cells and therefore resulting in death.…
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of the enzyme hexosaminidase A (Hex-A). Without Hex-A fatty proteins build up in the brain which cause damage to the brain cells. This damage causes children to loss motor skills and mental functions which overtime can cause the children to become blind, deaf, mentally retarded and nonresponsive to the environment.…
Emery, Muntoni, and Quinlivan (2015, p. 31) explain that children with DMD commonly experience decreased balance, resulting in falls, and toe walking as their first signs of DMD. Approximately 90 percent of children with DMD experience physical impairments such as calf hypertrophy, joint contractions, and lordosis (curvature) of the spine with many suffering significant muscle deterioration requiring wheelchair assistance by the age of twelve (Yiu & Komberg, 2015, p. 759). An example of these physical impairments can be seen in figure 2.…
As brilliant as John Nash was at coming up with solutions, there was one problem he was never able to solve, that of his own sanity. In the 1950’s Nash’s disease first began to manifest itself in the form of Paranoia. Paranoia is defined as a mental condition characterized by delusions of persecution, unwarranted jealousy, or exaggerated self-importance, typically elaborated into an organized system. For Nash this disease manifested itself by him being under the impression that every man he saw wearing a red tie was a communist spy who was a part of a great scheme to rise up a government in the United States to take over the country. Nash even went so far as to send letters to United States embassies in Washington D.C. to warn them of the threat of these communist spies. Nash’s…
What Everyone Needs to Know - Facts about Sudden Infant Death Syndrome (SIDS). The SIDS Network, Internet, 1997. Http://sids-network.org/facts.htm.…
References: Gutierez, David. (2009). Multiple sclerosis caused by vitamin D deficiency. Retrieved on June 7, 2009 from http://www.naturalnews.com/025791.html.…