Signs and symptoms below are most common in the severe SMA type 0/I:
Areflexia, particularly in extremities
Overall muscle weakness, poor muscle tone, limpness or a tendency to flop
Difficulty achieving developmental milestones, difficulty sitting/standing/walking
In small children: adopting of a frog-leg position when sitting (hips abducted and knees flexed)
Loss of strength of the respiratory muscles: weak cough, weak cry (infants), accumulation of secretions in the lungs or throat, respiratory distress
Bell-shaped torso (caused by using only abdominal muscles for respiration) in severe SMA type
Fasciculations (twitching) of the tongue
Difficulty sucking or swallowing, poor feeding

Causes
Spinal muscular atrophy is caused by a genetic mutation in the SMN1 gene.Human chromosome 5 contains two nearly identical genes at location 5q13: a telomeric copy SMN1 and a centromeric copy SMN2. In healthy individuals, the SMN1 gene codes the survival of motor neuron protein (SMN) which, as its name says, plays a crucial role in survival of motor neurons.
Blantyre Coma Scale
The Blantyre Coma Scale is a modification of the Pediatric Glasgow Coma Scale, designed to assess malarial coma in children. It was designed by doctors Terrie Taylor and Malcolm Molyneux in 1987, and named for the Malawian city of Blantyre, site of the Blantyre Malaria Project. Rancho Los Amigos Scale
The Rancho Los Amigos Scale is used to assess individuals after a closed head injury based on cognitive and behavioural presentations as they emerge from coma. It is named after the Rancho Los Amigos National Rehabilitation Center, located in Downey, California, United States. FOUR score
See also
Level of consciousness


== References ==