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5q spinal muscular atrophy; Autosomal recessive proximal spinal muscular atrophy; Werdnig–Hoffmann disease / Kugelberg–Welander disease; 253300 253550 253400 271150: SMN1: 5q13.2: Autosomal recessive: Affects primarily proximal muscles in people of all ages, progressive, relatively common XLSMA: X-linked spinal muscular atrophy type 1 (SMAX1)
This usually starts with the observation of bulk, possible atrophy or loss of muscle tone. Neuromuscular disease can also be diagnosed by various blood tests and using electrodiagnostic medicine tests [ 23 ] including electromyography [ 24 ] (measuring electrical activity in muscles) and nerve conduction studies . [ 25 ]
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.
The Seneca, formerly known as the Seneca Hotel, is a 10-story apartment complex and former hotel in the Discovery District of downtown Columbus, Ohio. The brick building was designed by architects Frank Packard and David Riebel & Sons and built in 1917, in a prominent location near Franklin County Memorial Hall, where conventions were held. A ...
The $100-million, 55,000-square-foot center is the first treatment facility in central Ohio to offer this type of radiation therapy. ... Dec 20, 2023; Columbus, Ohio, USA; Timothy Cripe speaks ...
Pain, weakness, loss of muscle at the base of the thumb, swelling, paleness, bluish coloration [1] [2] Usual onset: 20 to 50 years of age [1] Types: Neurogenic, venous, arterial [1] Causes: Compression of the nerves, arteries, or veins in the superior thoracic aperture (thoracic outlet), the passageway from the lower neck to the armpit [1] Risk ...
Neurogenic claudication (NC), also known as pseudoclaudication, is the most common symptom of lumbar spinal stenosis (LSS) and describes intermittent leg pain from impingement of the nerves emanating from the spinal cord. [1] [2] Neurogenic means that the problem originates within the nervous system.
Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII (dHMN8), is a hereditary medical condition characterized by muscle wasting (), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle.