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Paralysis is a loss of motor function in one or more muscles. Paralysis can be accompanied by a loss of feeling in the affected area if there is sensory damage as well as motor. In the United States, roughly 1 in 50 people have been diagnosed with some form of permanent or transient paralysis. The word comes from the Greek παράλυσις, "disabling of the nerves", itself from παρά (para), "beside, by" and λύσις (lysis), "making loose". A paralysis accompanied by involuntary tremors is usually called "palsy".
Hydrocephalus is a condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the brain. This typically causes increased pressure inside the skull. Older people may have headaches, double vision, poor balance, urinary incontinence, personality changes, or mental impairment. In babies, it may be seen as a rapid increase in head size. Other symptoms may include vomiting, sleepiness, seizures, and downward pointing of the eyes.
Spina bifida is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, meningocele and myelomeningocele. Meningocele and myelomeningocele may be grouped as spina bifida cystica. The most common location is the lower back, but in rare cases it may be in the middle back or neck. Occulta has no or only mild signs, which may include a hairy patch, dimple, dark spot or swelling on the back at the site of the gap in the spine. Meningocele typically causes mild problems, with a sac of fluid present at the gap in the spine. Myelomeningocele, also known as open spina bifida, is the most severe form. Problems associated with this form include poor ability to walk, impaired bladder or bowel control, accumulation of fluid in the brain (hydrocephalus), a tethered spinal cord and latex allergy. Learning problems are relatively uncommon.
Iniencephaly is a rare type of cephalic disorder characterised by three common characteristics: a defect to the occipital bone, spina bifida of the cervical vertebrae and retroflexion of the head on the cervical spine. Stillbirth is the most common outcome, with a few rare examples of live birth, after which death almost invariably occurs within a short time.
A dermoid cyst is a teratoma of a cystic nature that contains an array of developmentally mature, solid tissues. It frequently consists of skin, hair follicles, and sweat glands, while other commonly found components include clumps of long hair, pockets of sebum, blood, fat, bone, nail, teeth, eyes, cartilage, and thyroid tissue.
Gluteoplasty denotes the plastic surgery and the liposuction procedures for the correction of the congenital, traumatic, and acquired defects and deformities of the buttocks and the anatomy of the gluteal region; and for the aesthetic enhancement of the contour of the buttocks.
The Groningen Protocol is a medical protocol created in September 2004 by Eduard Verhagen, the medical director of the department of pediatrics at the University Medical Center Groningen (UMCG) in Groningen, the Netherlands. It contains directives with criteria under which physicians can perform "active ending of life on infants" without fear of legal prosecution.
Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube. When the neural tube does not close completely, an NTD develops.
Fetal surgery also known as fetal reconstructive surgery,antenatal surgery, prenatal surgery, is a growing branch of maternal-fetal medicine that covers any of a broad range of surgical techniques that are used to treat birth defects in fetuses who are still in the pregnant uterus. There are three main types: open fetal surgery, which involves completely opening the uterus to operate on the fetus; minimally invasive fetoscopic surgery, which uses small incisions and is guided by fetoscopy and sonography; and percutaneous fetal therapy, which involves placing a catheter under continuous ultrasound guidance.
Freeman–Sheldon syndrome (FSS) is a very rare form of multiple congenital contracture (MCC) syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis (DA). It was originally described by Ernest Arthur Freeman and Joseph Harold Sheldon in 1938.
Sprengel's deformity is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. The deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position. The deformity is commonly associated with other conditions, most notably Klippel–Feil syndrome, congenital scoliosis, including cervical scoliosis, fused ribs, the presence of an omovertebral bone and spina bifida. The left shoulder is the most commonly affected shoulder, but the condition can be bilateral, meaning that both shoulders are affected.
A sacral dimple is a small depression in the skin, located just above the buttocks. The name comes from the sacrum, the bone at the end of the spine, over which the dimples are found.
Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. Various forms include tight filum terminale, lipomeningomyelocele, split cord malformations (diastematomyelia), dermal sinus tracts, and dermoids. All forms involve the pulling of the spinal cord at the base of the spinal canal, literally a tethered cord. The spinal cord normally hangs loose in the canal, free to move up and down with growth, and with bending and stretching. A tethered cord, however, is held taut at the end or at some point in the spinal canal. In children, a tethered cord can force the spinal cord to stretch as they grow. In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated. TCS is often associated with the closure of a spina bifida. It can be congenital, such as in tight filum terminale, or the result of injury later in life.
The pars interarticularis, or pars for short, is the part of a vertebra located between the inferior and superior articular processes of the facet joint.
18p- is a genetic condition caused by a deletion of all or part of the short arm of chromosome 18. It occurs in about 1 of every 50,000 births.
Rachischisis is a developmental birth defect involving the neural tube. This anomaly occurs in utero, when the posterior neuropore of the neural tube fails to close by the 27th intrauterine day. As a consequence the vertebrae overlying the open portion of the spinal cord do not fully form and remain unfused and open, leaving the spinal cord exposed. Patients with rachischisis have motor and sensory deficits, chronic infections, and disturbances in bladder function. This defect often occurs with anencephaly.
The MOMS Trial was a clinical trial that studied treatment of a birth defect called myelomeningocele, which is the most severe form of spina bifida. The study looked at prenatal and postnatal surgery to repair this defect. The first major phase concluded that prenatal surgery had strong, long-term benefits and some risks.
Karin Marie Muraszko is Julian T. Hoff Professor and chair of the Department of Neurosurgery at the University of Michigan. She is the first woman to head a neurosurgery department at any medical school in the US. She specializes in brain and spinal cord abnormalities. She has a spinal cord abnormality, spina bifida.
(HES7) or bHLHb37 is protein coding mammalian gene found on chromosome 17 in humans. HES7 is a member of the Hairy and Enhancer of Split families of Basic helix-loop-helix proteins. The gene product is a transcription factor and is expressed cyclically in the presomitic mesoderm as part of the Notch signalling pathway. HES7 is involved in the segmentation of somites from the presomitic mesoderm in vertebrates. The HES7 gene is self-regulated by a negative feedback loop in which the gene product can bind to its own promoter. This causes the gene to be expressed in an oscillatory manner. The HES7 protein also represses expression of Lunatic Fringe (LFNG) thereby both directly and indirectly regulating the Notch signalling pathway. Mutations in HES7 can result in deformities of the spine, ribs and heart. Spondylocostal dysostosis is a common disease caused by mutations in the HES7 gene. The inheritance pattern of Spondylocostal dysostosis is autosomal recessive.
References
- ↑ Vigo, G.; Toldo, I.; De Grandis, D.; Beltrame, V.; Sartori, S.; Suppiej, A. (2015-05-01). "PP09.14 – 2843: Congenital absence of gluteal muscles without spina bifida occulta: The first case report". European Journal of Paediatric Neurology. Abstracts of the 11th EPNS Congress. 19: S68–S69. doi:10.1016/S1090-3798(15)30226-9. ISSN 1090-3798.
- Carnevale A, del Castillo V, Sotillo AG, Larrondo J (1976). "Congenital absence of gluteal muscles. Report of two sibs". Clin Genet. 10 (3): 135–8. doi:10.1111/j.1399-0004.1976.tb00025.x. PMID 786514.