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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.
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]
Neurologic signs result from severe angulation of the spine, narrowing of the spinal canal, instability of the spine, and luxation or fracture of the vertebrae. Signs include rear limb weakness or paralysis, urinary or fecal incontinence, and spinal pain. [5] Most cases of hemivertebrae have no or mild symptoms, so treatment is usually ...
The course of the disorder is progressive. In children, symptoms may include the "stigmata" mentioned above and/or foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. In adulthood, the signs and symptoms often include progressive sensory and motor problems and loss of bowel and bladder control.
Muscle fibrosis and Joint contractures or fixed deformities are cardinal clinical signs of congenital muscular dystrophies. Muscle fibrosis and shortening eventually lead to joint contractures or fixed deformities. They are important to the diagnosis of CMD. However, some patients initially present with joint laxity.
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.
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.
Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect.It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1]