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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.
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 ...
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.
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.
It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2] Some babies are born with very small differences compared to typical development, and others have significant changes.
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 ]
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 ...
The hunched position that often results from complete spinal fusion can have an effect on a person's gait. Increased spinal kyphosis will lead to a forward and downward shift in center of mass (COM). This shift in COM has been shown to be compensated by increased knee flexion and ankle dorsiflexion. The gait of someone with ankylosing ...