Usually, the first respiratory symptoms are shortness of breath (dyspnea) and paradoxical respirations which then escalate within the first few months of life to diaphragmatic paralysis. The symptoms of diaphragmatic paralysis come on very rapidly and without warning, and the patient is often rushed to a hospital where they are placed on a ventilator for respiratory support. Due to the severe nature of diaphragmatic paralysis, the patient eventually needs continuous ventilation support to survive. Continuous ventilation, however, may in itself cause damage to the anatomy of the lungs. In addition to diaphragmatic paralysis, other issues may arise: as the name suggests, the distal limbs are most affected with symptoms of weakness, restricting mobility due to (near-)paralysis of the distal limbs as well as the head and neck. Also, dysfunction of the peripheral nerves and the autonomic nervous system may occur. Due to these dysfunctions, the patients have been shown to suffer from excessive sweating and irregular heartbeat. The deep tendon reflex is also lost in patients with DSMA1. Uterine growth retardation and poor foetal movement have been observed in severe DSMA1 cases.
Distal spinal muscular atrophy type 1
Distal spinal muscular atrophy type 2
Jokela type spinal muscular atrophy
Spinal muscular atrophy
X-linked spinal muscular atrophy type 2
Fukuyama congenital muscular dystrophy
Becker muscular dystrophy
Ullrich congenital muscular dystrophy