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Spinal muscular atrophy was then classified into 3–5 clinical types based either on the age of symptom onset or on the maximum motor function achieved. [10] [13] Currently, the consensus is that the phenotype of spinal muscular atrophy spans a continuum of symptoms without clear delineation of subtypes. [10]
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]
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.
PMA is a diagnosis of exclusion, there is no specific test which can conclusively establish whether a patient has the condition.Instead, a number of other possibilities have to be ruled out, such as multifocal motor neuropathy or spinal muscular atrophy.
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.
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.
As with other forms of ataxia, SCA frequently results in atrophy of the cerebellum, [5] loss of fine coordination of muscle movements leading to unsteady and clumsy motion, and other symptoms. Ocular deficits can be quantified using the SODA scale. [6] The symptoms of an ataxia vary with the specific type and with the individual patient.
Lower extremity-predominant spinal muscular atrophy type 2B, SMALED2B: Spinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner. Specialty: Neurology: Symptoms: Generalised severe hypotonia at birth: Usual onset: Infancy: Duration: Lifetime: Causes: Mutations in BICD2 gene: Diagnostic method ...
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