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. 2017 Oct 16;63(2):E41-E44.

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

Mawaddah Ar Rochmah  1 , Ai Shima  1   2 , Nur Imma Fatimah Harahap  1 , Emma Tabe Eko Niba  1 , Naoya Morisada  1   3 , Shinichiro Yanagisawa  4 , Toshio Saito  5 , Kaori Kaneko  6 , Kayoko Saito  6 , Ichiro Morioka  7 , Kazumoto Iijima  7 , Poh San Lai  8 , Yoshihiro Bouike  9 , Hisahide Nishio  1   7 , Masakazu Shinohara  1
Affiliations

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

Mawaddah Ar Rochmah et al. Kobe J Med Sci. .

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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Conflict of interest statement

DECLARATION OF INTEREST

The authors declare that there is no conflict of interests regarding the publication of this paper.

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