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The age of onset and the severity of symptoms form the basis of the traditional classification of spinal muscular atrophy into a number of types. [4] Spinal muscular atrophy is due to an abnormality in the SMN1 gene [1] [2] which encodes SMN, a protein necessary for survival of motor neurons. [8]
Autosomal recessive proximal spinal muscular atrophy, responsible for 90-95% of cases and usually called simply spinal muscular atrophy (SMA) – a disorder associated with a genetic mutation on the SMN1 gene on chromosome 5q (locus 5q13), diagnosed predominantly in young children and in its most severe form being the most common genetic cause ...
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 .
Experts are calling for the condition to be included as part of the routine newborn screening tests.
SMA type 2 is diagnosed to young children. Unlike those with type 1, these children can sit without assistance, but are unable to walk. This type mostly concerns the legs and arms. Some other problems that SMA type 2 patients might encounter are orthopedic, bone, and joint complications. SMA type 3 is typically diagnosed to kids and adults.
[1] [2] They include amyotrophic lateral sclerosis (ALS), [3] [4] progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS. Motor neuron diseases affect both children and ...
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by mutations in the SMN1 gene. [59] Symptoms vary greatly with each subset of SMA and the stage of the disease. General symptoms include overall muscle weakness and poor muscle tone including extremities and respiratory muscles leading to difficulty walking ...
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.
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