Irena hausmanowa-petrusewicz biography of christopher
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Spinal and bulbar muscular atrophy
This article is about a type of spinal muscular atrophy linked to a genetic defect in the AR gene. For a list of other conditions with similar names, see Spinal muscular atrophies.
Medical condition
| Spinal and bulbar muscular atrophy | |
|---|---|
| Other names | Kennedy's disease (KD), spinobulbar muscular atrophy, bulbo-spinal atrophy, X-linked bulbospinal neuropathy (XBSN), X-linked spinal muscular atrophy type 1 (SMAX1), and many other names[1] |
| This disorder is inherited via X-linked recessive manner | |
| Specialty | Neurology |
| Symptoms | Weakness of limb and bulbar muscles, tremor, fasciculations, muscle cramps, dysarthria and dysphagia |
| Causes | Mutation in the AR gene |
| Diagnostic method | Number of CAG repeats in the AR gene |
| Treatment | Supportive Care |
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 bygd trinu
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Scientist Panels
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Abstract
Lamins (LMNA) are the main proteins of the nuclear lamina considered to be the ancestors of all intermediate filament proteins. They form complex protein assemblies with integral proteins of the inner nuclear membrane, transcriptional regulators, histones and chromatin modifiers. During recent years, interest in lamins has greatly increased due to the identification of many distinct heritable human disorders associated with lamin mutations. These disorders, collectively termed laminopathies, range from muscular dystrophies to premature aging. They may affect muscle, fat, bone, nerve and skin tissues. The workshop was addressed to understand lamin organization and its roles in nuclear processes, mutations in lamins affecting cell and tissues functions, the biology of the nucleus and laminopathic disease mechanisms, all aspects important for designing future therapies.
Key words: LMNA A/C gene, laminopathies, Emery-Dreifuss muscular dystrophy
A workshop dedicated to the