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Hemivertebrae are wedge-shaped vertebrae and therefore can cause an angle in the spine (such as kyphosis, scoliosis, and lordosis). Among the congenital vertebral anomalies, hemivertebrae are the most likely to cause neurologic problems. [5] The most common location is the midthoracic vertebrae, especially the eighth (T8). [6]
Rigid spine syndrome, also known as congenital muscular dystrophy with rigidity of the spine (CMARS), is a rare and often debilitating neuromuscular disorder. It is characterized by progressive muscle stiffness and rigidity, particularly in the spine, which can severely limit mobility and impact quality of life.
KFS is associated with many other abnormalities of the body, hence thorough evaluation of all patients with fused cervical vertebrae at birth is required. Furthermore, it is unclear whether KFS is a unique disease, or if it is one part of a spectrum of congenital spinal deformities. [citation needed] KFS is usually diagnosed after birth.
In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated. [1] 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. [2] [3]
Bertolotti's syndrome is characterized by sacralization of the lowest lumbar vertebral body and lumbarization of the uppermost sacral segment. It involves a total or partial unilateral or bilateral fusion of the transverse process of the lowest lumbar vertebra to the sacrum, leading to the formation of a transitional 5th lumbar vertebra.
CMD with spinal rigidity present at birth can have poor muscle tone and weakness, reduced respiratory capacity, muscles could be deformed, beginning early ages stabilization or slow decline spinal rigidity, limited mobility to flex the neck and spine, spinal curvature and progressing deformity and rigidity joints, minor cardiac abnormalities ...
Changes in the spinal bones in the neck may also increase the risk of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), a hip joint deformity in which the upper leg bones turn inward , and an inward- and downward-turning foot (called clubfoot). Decreased joint mobility and arthritis often develop early in life.
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6]