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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.
Some disorders, like ALS, can occur sporadically (85%) or can have a genetic cause (15%) with the same clinical symptoms and progression of disease. [6] UMNs are motor neurons that project from the cortex down to the brainstem or spinal cord. [18] LMNs originate in the anterior horns of the spinal cord and synapse on peripheral muscles. [18]
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 ]
Limb girdle muscular dystrophies (LGMD) as defined by the European Neuromuscular Centre in 2018. [1] [2] They are named by the following system: LGMD, recessive or dominant inheritance (R or D), order of discovery (number), affected protein.
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...
Subacute combined degeneration of spinal cord, also known as myelosis funiculus, or funicular myelosis, [1] also Lichtheim's disease, [2] [3] and Putnam-Dana syndrome, [4] refers to degeneration of the posterior and lateral columns of the spinal cord as a result of vitamin B 12 deficiency (most common).
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]
Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles.
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