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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.
Likewise developed a CIFS/SMB implementation (versions 1.0, 2.0, 2.1 and SMB 3.0) in 2009 that provided a multiprotocol, identity-aware platform for network access to files used in OEM storage products built on Linux/Unix based devices. The platform could be used for traditional NAS, Cloud Gateway, and Cloud Caching devices for providing secure ...
Prevalence of disease in a rigorous meta-analysis in 2017 was 46 patients per million. [6] The earliest published prevalence was in 2000 and put at 5 per million. [6] A 2017 study in Ireland reported 112 per million. [6] It is not believed that the disease prevalence is increasing with time, but rather diagnostics and reporting are improving. [6]
The symptoms vary depending on the SMA type, the stage of the disease as well as individual factors. Signs and symptoms below are most common in the severe SMA type 0/I: [19] [medical citation needed] Areflexia, particularly in extremities; Overall muscle weakness, poor muscle tone, limpness or a tendency to flop
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD), now more commonly referred to as multisystem proteinopathy (MSP), is an autosomal dominant condition caused by mutations in VCP, HNRPA2B1 or HNRNPA1; it is a multisystem degenerative disorder that can affect muscle, bone, and/or the central nervous system.
SMB may refer to: Business. Small and medium-sized enterprises (SMEs), ... Server Message Block (SMB or SMB/CIFS), a network protocol; Other technologies
Meaning s̅: without (s with an overbar) (from Latin sine) S: sacrum: S x: symptoms surgery (though deemed by some as inappropriate) S 1: first heart sound: S 2: second heart sound: S 3: third heart sound S 4: fourth heart sound S&O: salpingo-oophorectomy Sb: Scholar batch SAAG: serum–ascites albumin gradient SAB: staphylococcal bacteremia