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Spinal muscular atrophy (SMA) is a rare neuromuscular disease resulting from the deletion or mutation of the survival motor neuron (SMN) 1 gene ( Ross and Kwon, 2019).

The relationship between the two diseases needs to be further elucidated in future clinical work. We speculated that the moyamoya phenomenon may be related to the abnormal regulation of intracranial vascular endothelial cells and smooth muscle cells in proliferation and differentiation caused by functional defects of SMN protein.

Our study found that the rare SMA and MMS co-exist. After treatment, the patient's symptoms improved. She was diagnosed as SMA type IIIb combined with MMS following genetic testing, in which homozygous deletion of exons 7 and 8 of survival motor neuron (SMN)1 gene and 3 copies of exons 7 and 8 of SMN2 gene were detected. Cranial MRA showed occlusion of bilateral anterior and middle cerebral arteries, with increased peripheral blood vessels and collateral circulation. Electromyography revealed extensive motor neuron damage. We report herein a 21-year-old female patient with limb weakness and muscular atrophy for 17 years. Moyamoya syndrome (MMS) or moyamoya disease (MMD) is radiologically defined by chronic cerebrovascular occlusion with abnormal vascular network formation in the skull base. Spinal muscular atrophy (SMA) is an inherited disorder characterized by degeneration of motor neurons and symmetrical muscle weakness and atrophy.