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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]
The disease has only been identified as distinct from SMA recently, so research is still experimental, taking place mostly in animal models. Several therapy pathways have been devised which include gene therapy , whereby an IGHMBP2 transgene is delivered to the cell using a viral vector , [ 7 ] and small-molecule drugs like growth factors (e.g ...
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.
List of medical symptoms. Medical symptoms refer to the manifestations or indications of a disease or condition, perceived and complained about by the patient. [1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals.
Onasemnogene abeparvovec, sold under the brand name Zolgensma, is a gene therapy used to treat spinal muscular atrophy (SMA), [6] [7] a disease causing muscle function loss in children. It involves a one-time infusion of the medication into a vein . [ 6 ]
SMA Solar Technology AG (meaning System, Mess and Anlagentechnik) is a German solar energy equipment supplier founded in 1981 and headquartered in Niestetal, Northern Hesse, Germany. SMA is a producer and manufacturer of solar inverters for photovoltaics systems with grid connection, off-grid power supply and backup operations.
Symptoms may improve after restoration of weight, except when reversed peristalsis persists, or if regained fat refuses to accumulate within the mesenteric angle. [17] Most patients seem to benefit from nutritional support with hyperalimentation irrespective of disease history. [22]
Many patients with hereditary or idiopathic forms of ataxia have other symptoms in addition to ataxia. Medications or other therapies might be appropriate for some of these symptoms, which could include tremor, stiffness, depression, spasticity, and sleep disorders, among others. Both onset of initial symptoms and duration of disease are variable.