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O que (quem) é X-linked spinal muscular atrophy type 2 - definição
X-linked spinal muscular atrophy type 2
X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy). The disease is caused by a mutation in UBA1 gene and is passed in an X-linked recessive manner by carrier mothers to affected sons.
Spinal muscular atrophies
GROUP OF DISEASES
Spinomuscular atrophy; Infantile Spinal Muscular Atrophy; Intermediate Spinal Muscular Atrophy; Spinal muscle atrophy; SMAs
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. While some SMAs lead to early infant death, other diseases of this group permit normal adult life with only mild weakness.
Jokela type spinal muscular atrophy
NEUROMUSCULAR DISEASE
Jokela-type spinal muscular atrophy; LOSMoN; Late-onset spinal motor neuronopathy
Jokela type spinal muscular atrophy (SMAJ), also known as late-onset spinal motor neuronopathy (LOSMoN), is an ultra-rare neuromuscular disorder characterized by muscle twitches and cramps. The symptoms appear in adulthood and gradually progress.
