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Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy

Mawaddah Ar Rochmah¹, Ai Shima^1,2, Nur Imma Fatimah Harahap¹

¹Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan.

The Kobe Journal of Medical Sciences

|February 14, 2018

Abstract

Background:

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a mutation in SMN1. SMA is classified into three subtypes (types 1, 2, 3) based on achieved motor milestones. Although NAIP and SMN2 are widely accepted as SMA-modifying factors, gender-related modifying factors or gender effects on the clinical phenotype are still controversial.

Methods:

A total of 122 Japanese patients with SMA, of which SMN1 was homozygously deleted, were analyzed from the perspective of the achieved motor milestone, NAIP status and SMN2 copy number.

Results:

A predominance of male patients was observed in SMA type 3 (the walker group) without NAIP-deletion or with high SMN2 copy number (3 or 4 copies).

Conclusion:

We suggest the presence of gender-related modifiers on disease severity in SMA patients. The modifiers may contribute only in the presence of NAIP and a high copy number of SMN2.

Keywords:

NAIP Spinal muscular atrophy SMN2 clinical phenotype gender

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