Cushing’s Disease Description Cushing’s Disease is an adrenal gland disease in which there is an excess of the steroid hormone, cortisol, within the body. With Cushing’s Disease the body releases too, much of the adrenocorticotropic hormone (ACTH). This disease is rare as it effects 10 to 15 people per million each year.…
Neonatal Adrenoleukodystrophy, or NALD, is an autosomal recessive disease involving the defective growth of the adrenal glands and white matter in the brain. As an intermediate on the PBD-Zellweger syndrome continuum, NALD is marked by limited psychomotor development, facial dimorphisms, seizures, in addition to visual and auditory impairments; being fatal in some cases. Its peroxisomal deficiencies impart the presence of defects in plasma very long chain fatty acid levels, bile acid, and associated biochemical parameters. Such abnormalities are a result of over fifteen genes that regulate peroxisomal biogenesis. Specifically, mutations to the PEX5 gene terminates normal protein translocation into the peroxisomal matrix.…
Tay-Sachs disease is a genetic disorder that affects nerve cells in the brain and spinal cord. This condition is caused by mutations in a gene called hexosaminidase subunit alpha(HEXA). The HEXA is a gene that provides instructions for making beta-hexosaminidase that makes a functional enzyme with one alpha subunit. Beta-hexosaminidase is an enzyme that is located in lysosomes, is an important enzyme that breaks down a GM2 ganglioside. Therefore, the lack of the beta-hexosaminidase enzyme results in the accumulation of the GM2 ganglioside in the brain and spinal cord that damages nerve cells.…
Have you ever seen a baby that couldn’t breathe? Blue baby syndrome is not rare it is actually very common. This is the story about how one man changed the lives for many young blue babies. Vivien Thomas was an African American kid who had a dream of going to college and becoming a doctor. Vivien worked very hard for money to go to college.…
There are more than 200,000 US cases per year with an estimate ranging from 1.5 to more than 4: 1,000 live births or of defined age range. Symptoms can appear during infancy or preschool years. It affects “. . . body movement, muscle control, muscle coordination, muscle tone, reflex, posture, and balance. It can also impact fine motor skills, gross motor skills, and oral motor functioning.”…
Muckle-Wells syndrome (MWS) is a rare genetic disorder that causes hive-like skin rashes, chills, fever, partial or total hearing loss, swollen joints, loss of kidney function, and can eventually lead to amyloidosis in some patients. Muckle-Wells syndrome is named after Thomas J. Muckle and Michael V. Wells who first described the disease in April of 1962 [1]. Muckle-Wells is in a family of diseases called Cryopyrin-Associated Autoinflammatory Syndromes (CAPS) which all are related because they are caused by a deficiency in the NLRP3 gene which is what codes for the protein Cryopyrin [2,3]. People tend to start showing symptoms as early as infancy or early childhood, and affects them for their entire lives, and if not treated can cause death…
Tay - Sachs disease is a fatal and genetic disorder. The disease “leads to gradual deterioration of the central nervous system. ” A child inherits the genetic abnormality if both parents are carriers of the TS gene. The gene mutation that is inherited with TSD is Hex- A. Since there is a lack of enzyme Hex -A a substance called GM2 begins to accumulate.…
Tay-sachs disease is a rare disorder that is caused from a missing enzyme that is used to break down fatty substances. The fatty substance is Gangliosides, which begins to build up to a toxic level in a child’s brain and begins to affect their nerve cells. As the disease begins to progress in the child, the control of their muscles weakens and it leads to blindness, paralysis, and eventually death. Symptoms begin to show in the first three to six months of an infant's life, but it can be detected before birth. Infant’s begin to lose control of their motor skills like, turning over, crawling, and sitting up.…
Neurodevelopmental disorders are ailments which affect brain and neurological system. It include conditions such as epilepsy, intellectual disability/developmental delay, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorders, schizophrenia, conduct disorders, dyslexia, cerebral palsy, and visual and hearing impairments (DSM-5, Development. American Psychiatric Association; 2013). The estimated prevalence for intellectual disability/developmental delay is 10.37/1000 population1, for autism spectrum disorders is 7.6 per 10002, and epilepsy is 5.8 per 1,000 population (for high income countries), 10.3 per 1,000 (for lower income countries) in urban areas and 15.4 per 1,000 (for lower income countries) in rural area3. Most…
PTSD SPIRITUALITY Dr. John Zemler acquired his PTSD some 25 years ago while serving in the US Army. He subsequently earned a doctorate in Theology after he left the Army. He now combines his experience in Theology, surviving 25 years of his own PTSD, and his work as a University Professor and Spiritual Director, to encourage trauma survivors to not give up hope. Additionally, he helps trauma survivors and their loved ones to understand how PTSD affects the soul and can induce alienating behaviors.…
This damage to the brain may be evident in a lack of intellectual functioning and academic skills also a delay in verbal learning, memory, reception and reflex, balance, understanding of cause and effect, and other cognitive and motor skills. Unfortunately these delays are present and consistent throughout the person's life. Autopsies of the brains of children with FAS have demonstrated widespread and severe damage, including the following Malformations of the brain tissue, both in the "gray matter" and "white matter" regions. Failure of certain brain regions (e.g., the corpus callosum) to develop.…
Rett Syndrome is a disorder that affects the nervous system and is found almost exclusively in girls. Rett syndrome is caused by a malfunction in the MECP2 gene. What is exactly the MECP2 gene? Well MECP2 gene is the gene that encodes protein and essentials. How can you prevent Rett Syndrome?…
White nose syndrome has a disease in bats that has been putting bats near extinction. White nose syndrome has killed 6.7 bats in North America since 2006. This disease has been confirmed in 28 different states in North America. White nose syndrome happens during hibernation when the bat’s immune system is low.…
Asperger Syndrome (AS) is a one of five autistic spectrum disorders. AS is also recognized by some as a neurological disorder. Sufferers of this syndrome share many of the same characteristics of autism except the accompanying disabilities. The syndrome can exhibit a variety of characteristics ranging from mild to severe. Those afflicted with AS have difficulty understanding what people around them think and feel.…
Symptoms of the disorder are obvious from infancy. Unlike most children eight to ten month old,…