Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities. Presentation
Symptoms of disease are more severe in males, who are generally diagnosed in early childhood. Children with CLS display cognitive disabilities of varying severity. Additional neuromuscular features include sleep apnea, muscular spasticity, progressive loss of muscle strength and tone leading to paraplegia or partial paralysis. Affected individuals are at elevated risk of stroke. Some patients experience stimulus-induced drop attacks (SIDAs, temporary paralytic episodes without loss of consciousness), triggered by unpredictable environmental stimuli (touch, scents, sounds, etc.). SIDA episodes become more frequent as the disease progresses, and become frequent around adolescence in males. Additional clinical physical features include small, soft hands with tapered fingers. Distinct facial architecture such as a flattened nose, widely separated and downward sloping eyes, a prominent forehead, and a wide mouth with large lips are reported as coincident facial features in patients with the disorder. Some individuals experience hearing loss. Others display kyphoscoliosis (multidirectional curvature of the spine) which can lead to difficulty with breathing and/or pulmonary hypertension. Cardiorespiratory complications may arise, which is why it is recommended that CLS patients undergo regular monitoring for spinal irregularities. Physical exams, CT imaging and X-ray imaging are standard methods of assessment. Causes
The syndrome is caused by mutations in the RPS6KA3 gene. This gene is located on the short arm of the X chromosome (Xp22.2).
AAOx3 is not a concerning response since people are sometimes less aware of the situation due to pain, time of day, or lack of significant event.Alternately, the letters in AAOx4 can be documented as COAX4. A person who is COAx4 is said to be "conscious, alert, & oriented to person, place, time and event". When a handoff report is made, anything less than 4 is specifically noted for clarity (e.g., patient is COAx2, oriented to self and place). Mental orientation is closely related, and often intermixed with trauma shock, including physical shock (see: Shock (circulatory)) and mental shock (see: Acute stress reaction, a psychological condition in response to terrifying events.) The exact cerebral region involved in orientation is uncertain, but lesions of the brain stem and the cerebral hemispheres have been reported to cause disorientation, suggesting that they act together in maintaining awareness and its subfunction of orientation. Disorientation
Disorientation is the opposite of orientation. It is a cognitive disability in which the senses of time, direction, and recognition of items (things), people and places become difficult to distinguish/identify. Causes of mental disorientation
Disorientation can occur in healthy young adults as well as in the elderly or ill person. While exercising, if a person becomes dehydrated as a result of over-exertion, he or she may become disoriented to the time or place. While exercising, the body may not be able to supply enough oxygen to the brain fast enough.