Spinal muscular atrophy type I with congenital bone fractures

Overview

Spinal muscular atrophy, type I, with congenital bone fractures: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Bone fractures also occur in newborn infants.

Symptoms

Congenital bone fractures Muscle wasting in limbs Muscle weakness in limbs Congenital contractures Reduced muscle tone

Diagnosis

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