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Spinal muscular atrophy is inherited in an autosomal recessive pattern, which means that the defective gene is located on an autosome. Two copies of the defective gene – one from each parent – are required to inherit the disorder: the parents may be carriers and not personally affected.
Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. [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 ...
Tethered spinal cord can be caused by various conditions but the main cause is when tissue attachments limit the movement of the spinal cord in the spinal column which causes abnormal stretching of the cord. The tethered spinal cord syndrome is correlated with having the causes: [10] Spina bifida. Occulta; Mylomeningocele; Meningocele
Symptoms for spinal tumors may vary due to factors such as the type of tumor, the region of the spine, and the health of the patient. Back pain is the most common symptom and it can be a problem if the pain is severe, has a time frame that lasts longer than it would for a normal injury, and becomes worse while laying down or at rest.
NTDs are one of the most common birth defects, affecting over 300,000 births each year worldwide. [2] For example, spina bifida affects approximately 1,500 births annually in the United States, or about 3.5 in every 10,000 (0.035% of US births), [ 1 ] [ 3 ] which has decreased from around 5 per 10,000 (0.05% of US births) since folate ...
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
Problems with DNA; SCA1 [13] 4th decade (<10 to >60) 15 years (10–35) Hypermetric saccades, slow saccades, upper motor neuron (note: saccades relates to eye movement) CAG repeat, 6p SCA2 [14] 3rd–4th decade (<10 to >60) 10 years (1–30) Diminished velocity saccades areflexia (absence of neurologic reflexes) Cuba: CAG repeat, 12q