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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 ...
Experts are calling for the condition to be included as part of the routine newborn screening tests.
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.
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.
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 .
Decreased foetal movement is apparent already before birth. The child is born with a generalised muscle weakness and contractures resembling arthrogryposis multiplex congenita, respiratory insufficiency, and sometimes facial deformations. [1] [2] The disorder is frequently fatal in early childhood. [1]
Newmeyer suggests parents download the CDC's free milestone tracker app, which can help parents keep tabs on their child's development from ages 2 months through 5 years old.
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