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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.
Spinal and bulbar muscular atrophy (SBMA) Kennedy's disease (KD) 313200: NR3C4: Xq12: X-linked recessive: Affects primarily bulbar muscles as well as sensory nerves mainly in adult men, progressive X-linked spinal muscular atrophy type 2 (SMAX2) Arthrogryposis multiplex congenita – X-linked type 1 (AMCX1) 301830: UBA1: Xp11.23: X-linked recessive
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 ]
Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) is a rare neuromuscular disorder characterised by muscle weakness predominantly in legs.The disorder is usually diagnosed shortly after birth; affected children have a delayed motor development, waddling gait, difficulties walking, sometimes develop spasticity.
Spinal and bulbar muscular atrophy; Spinal cord injury; Spinal cord tumors; Spinal muscular atrophy; Spinal muscular atrophy with respiratory distress type 1 – see Distal spinal muscular atrophy type 1; Spinocerebellar ataxia; Split-brain; Steele–Richardson–Olszewski syndrome – see Progressive supranuclear palsy; Stiff-person syndrome ...
X-linked spinal muscular atrophy type 2 is inherited in an X-linked recessive pattern. The gene associated with this disorder, UBA1, is located on the X chromosome at Xp11.3 and contains 27 exons; moreover, translation begins at the second exon. [6]
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.
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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