Health and Fitness

 Cerebrotendinous xanthomatotic (CTX) Cerebrotendinous xanthomatotic (CTX) is a rare condition that affects the body's ability to metabolize fats known as cholesterols. Patients with CTX are unable to break down different forms of cholesterol, which build up in certain areas of the body. Overview Cerebrotendinous xanthomatotic (CTX) is a rare condition that affects the body's ability to metabolize fats known as cholesterols. Patients with CTX are unable to break down different forms of cholesterol, which build up in certain areas of the body. CTX is characterized by fatty yellow nodules (xanthomas) located in the connective tissues within the brain. These deposits can cause progressive damage to the brain and other areas of the body. Patients with CTX do not have elevated levels of cholesterol in their blood; however, they do have elevated levels in their tissues. Symptoms Symptoms of CTX vary depending on the age of the patient, and the severity of the condition. Fo...

Overview Cerebrocostomandibular syndrome (CCMS) is a disorder that involves a small chin (micrognathia), an opening in the roof of the mouth (cleft palate), a narrow chest, missing ribs, gaps between ribs, and breathing and feeding difficulties. Other common features include scoliosis, developmental delay or intellectual disability, and hearing loss. Other medical problems can be seen as well. Breathing difficulties can lead to death in childhood, and most babies born with CCMS need surgery in the first year of life to help them breathe. These surgeries can include inserting a breathing tube directly into the throat (tracheostomy), surgeries to make the jaw or chest larger, surgery to insert a feeding tube into the stomach, and surgery to repair the hole in the roof of the mouth. CCMS is caused by changes in the SNRPB gene. A damaging change in one of a person’s two copies of the gene can cause the disorder. Most of the time, these changes are new to a child, and do not show up in fami...

Overview Cerebral folate deficiency is a neurological syndrome in which development is usually normal in the first year of life, but at approximately 2 years of age, affected children start to lose mental and motor skills (psychomotor regression). Some early symptoms are intellectual disability, speech difficulties, and development of recurrent seizures in a third of affected children. Motor issues such as tremors and lack of muscle control or coordination of voluntary movements (ataxia) can become severe. Cerebral folate deficiency occurs because of a deficiency of vitamin B folate (vitamin B9) in the brain caused by a low level of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid due to a disruption in the function of the folate receptor alpha (FRA). The function of the FRA can be disrupted by several causes. The most common etiology involves one of two autoantibodies blinding to the FRA resulting in a disruption in its function. The FRA is highly dependent on mitochondrial...

Overview Cerebral creatine deficiency syndromes (CCDS) are inborn errors of creatine metabolism which interrupt the formation or transport of creatine. Creatine is necessary to render available the energy of adenosine triphosphate (ATP) to all cells in the body. Creatine is essential to sustain the high energy levels needed for muscle and brain development. There are three types of CCDS: creatine transporter deficiency (CTD), guanidinoacetate methyltransferase deficiency (GAMT) and arginine: glycine amidinotransferase deficiency (AGAT). Signs & Symptoms The severity of CCDS varies from patient to patient. Global developmental delays affect all children with these disorders and may be the first sign, appearing before other symptoms. Speech delay may be particularly severe and is present in all affected children. Intellectual disability of variable severity is typically present in all older children and adults. Additional symptoms may include seizure disorders, muscle weakness, behav...

Overview Cerebellar agenesis is an extremely rare condition. Cerebellar agenesis is a descriptive term implying complete absence of the cerebellum, irrespective of its underlying cause (etiology). Usually, small remnants of the cerebellum are present; therefore, the term subtotal cerebellar agenesis is also used in the literature. It is now recognized that cerebellar agenesis can represent a primary disturbance of embryonic development (also called malformation), but it can also result from a secondary destruction of normally developed tissue (also called a disruption). (See the Causes section below for additional information). It is now established that the cerebellum is not only responsible for motor coordination (of muscles, the trunk and limbs, the tongue, and the eye muscles), but also plays an important role in many non-motor functions, including learning, memory, language, and behavior. Therefore, individuals with congenital as well as acquired cerebellar disorders often have le...

Overview Central pain syndrome is a neurological disorder caused by damage to the sensory pathways of the central nervous system (CNS). Common symptoms include pain (but also pruritus) and loss of sensation, usually in the face, arms and/or legs. Pain is often constant (but can be intermittent) and can be mild, moderate, or severe in intensity. Affected individuals may become hypersensitive to painful stimuli. The specific type of pain experience can vary from one individual to another based, in part, upon the underlying cause of the disorder and the area of the central nervous system affected. Central pain syndrome can potentially disrupt an individual’s daily routine. In severe cases, the pain can be agonizing and unrelenting and dramatically affect a person’s quality of life. Central pain syndrome can develop following a variety of conditions including stroke, multiple sclerosis, spinal cord injury, brain tumors, or iatrogenic damage to the central nervous system. Signs & Sympto...