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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 ...
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 ...
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]
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]
Diastematomyelia is a "dysraphic state" of unknown embryonic origin, but is probably initiated by an accessory neurenteric canal (an additional embryonic spinal canal.).) This condition may be an isolated phenomenon or may be associated with other segmental anomalies of the vertebral bodies such as spina bifida, kyphoscoliosis, butterfly vertebra, hemivertebra and block vertebrae which are ...
Infants with the severe form of the disease would be born with clear indications of the disease, such as disproportionate short stature, skeletal dysplasia, distinctive eye abnormalities, cleft palate, and others. However, infants with mild disease may only experience arthritis at birth, but may progress to more severe disease later in life ...