Symptoms
The symptoms vary greatly depending on the SMA type involved, the stage of the disease and individual factors and commonly include:
- Areflexia, particularly in extremities
- Overall muscle weakness, poor muscle tone, limpness or a tendency to flop (the "floppy baby" syndrome)
- Difficulty achieving developmental milestones, difficulty sitting/standing/walking
- In infants: adopting of a frog-leg position when sitting (hips abducted and knees flexed)
- Loss of strength of the pulmonary 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)
- Clenched fists with sweaty hands
- Head often tilted to one side, even when lying down
- Fasciculations (twitching) of the tongue
- Difficulty sucking or swallowing, poor feeding
- Arthrogryposis (multiple congenital contractures)
- Weight lower than normal
Read more about this topic: Spinal Muscular Atrophy
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