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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.
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 ...
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 management of scoliosis is complex and is determined primarily by the type of scoliosis encountered: syndromic, congenital, neuromuscular, or idiopathic. [1] Treatment options for idiopathic scoliosis are determined in part by the severity of the curvature and skeletal maturity , which together help predict the likelihood of progression.
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]
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]
The tethered spinal cord syndrome is correlated with having the causes: [10] Spina bifida. Occulta; Mylomeningocele; Meningocele; History of spinal trauma; History of spinal surgery; Tumor(s) in the spinal column; Thickened and/or tight filum terminale; Lipoma(s) in the spinal column; Dermal Sinus Tract (congenital deformity) Diastematomyelia ...
The first type is the congenital type known as early onset LAMA2 congenital muscular dystrophy type 1A or MDC1A. It presents at birth and has a relatively severe clinical presentation. Characteristically it manifests in muscle weakness, hyperlaxity or hypotonia, respiratory difficulties and developmental delay.