Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients

Ha Neul Jeong, Ji Sook Yi, Young Han Lee, Jung Hwan Lee, Ha Young Shin, Young Chul Choi, Seung Min Kim

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Hyperkalemic periodic paralysis (hyperKPP) is a muscle channelopathy characterized by recurrent paralytic attacks. Our previous study, in which we conducted whole-body muscle magnetic resonance imaging (MRI) in patients with hyperKPP, revealed muscle atrophy and fatty change in the lower extremity, especially in older persons. The aim of current study was to identify the progression of myopathy in hyperKPP patients had been assessed in the previous study. We performed lower-extremity muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A gene at an interval of 30 months. Muscle atrophy, edematous change, fatty change, and fat fraction quantified using the Dixon technique were compared with the previous MRI findings. The lower-extremity MRI scan showed progressive muscle pathologic findings when compared with the previous study. Muscle atrophy, edematous change, and fatty change were prominent in the superficial posterior compartment of the lower leg. The follow-up lower-extremity muscle MRI findings provide evidence for chronic progressive myopathy and suggest the usefulness of MRI for assessing disease progression in patients with hyperKPP. This study is meaningful in terms of providing data showing the longitudinal changes of muscles in patients with periodic paralysis.

Original languageEnglish
Pages (from-to)837-845
Number of pages9
JournalNeuromuscular Disorders
Volume28
Issue number10
DOIs
Publication statusPublished - 2018 Oct

Fingerprint

Hyperkalemic Periodic Paralysis
Lower Extremity
Magnetic Resonance Imaging
Muscles
Mutation
Muscular Atrophy
Muscular Diseases
Channelopathies
Paralysis
Disease Progression
Leg
Fats

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Cite this

Jeong, Ha Neul ; Yi, Ji Sook ; Lee, Young Han ; Lee, Jung Hwan ; Shin, Ha Young ; Choi, Young Chul ; Kim, Seung Min. / Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M : 30-month follow-up of seven patients. In: Neuromuscular Disorders. 2018 ; Vol. 28, No. 10. pp. 837-845.
@article{3c2aedfdac9b4727a96fc4a272935163,
title = "Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients",
abstract = "Hyperkalemic periodic paralysis (hyperKPP) is a muscle channelopathy characterized by recurrent paralytic attacks. Our previous study, in which we conducted whole-body muscle magnetic resonance imaging (MRI) in patients with hyperKPP, revealed muscle atrophy and fatty change in the lower extremity, especially in older persons. The aim of current study was to identify the progression of myopathy in hyperKPP patients had been assessed in the previous study. We performed lower-extremity muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A gene at an interval of 30 months. Muscle atrophy, edematous change, fatty change, and fat fraction quantified using the Dixon technique were compared with the previous MRI findings. The lower-extremity MRI scan showed progressive muscle pathologic findings when compared with the previous study. Muscle atrophy, edematous change, and fatty change were prominent in the superficial posterior compartment of the lower leg. The follow-up lower-extremity muscle MRI findings provide evidence for chronic progressive myopathy and suggest the usefulness of MRI for assessing disease progression in patients with hyperKPP. This study is meaningful in terms of providing data showing the longitudinal changes of muscles in patients with periodic paralysis.",
author = "Jeong, {Ha Neul} and Yi, {Ji Sook} and Lee, {Young Han} and Lee, {Jung Hwan} and Shin, {Ha Young} and Choi, {Young Chul} and Kim, {Seung Min}",
year = "2018",
month = "10",
doi = "10.1016/j.nmd.2018.06.008",
language = "English",
volume = "28",
pages = "837--845",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Limited",
number = "10",

}

Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M : 30-month follow-up of seven patients. / Jeong, Ha Neul; Yi, Ji Sook; Lee, Young Han; Lee, Jung Hwan; Shin, Ha Young; Choi, Young Chul; Kim, Seung Min.

In: Neuromuscular Disorders, Vol. 28, No. 10, 10.2018, p. 837-845.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M

T2 - 30-month follow-up of seven patients

AU - Jeong, Ha Neul

AU - Yi, Ji Sook

AU - Lee, Young Han

AU - Lee, Jung Hwan

AU - Shin, Ha Young

AU - Choi, Young Chul

AU - Kim, Seung Min

PY - 2018/10

Y1 - 2018/10

N2 - Hyperkalemic periodic paralysis (hyperKPP) is a muscle channelopathy characterized by recurrent paralytic attacks. Our previous study, in which we conducted whole-body muscle magnetic resonance imaging (MRI) in patients with hyperKPP, revealed muscle atrophy and fatty change in the lower extremity, especially in older persons. The aim of current study was to identify the progression of myopathy in hyperKPP patients had been assessed in the previous study. We performed lower-extremity muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A gene at an interval of 30 months. Muscle atrophy, edematous change, fatty change, and fat fraction quantified using the Dixon technique were compared with the previous MRI findings. The lower-extremity MRI scan showed progressive muscle pathologic findings when compared with the previous study. Muscle atrophy, edematous change, and fatty change were prominent in the superficial posterior compartment of the lower leg. The follow-up lower-extremity muscle MRI findings provide evidence for chronic progressive myopathy and suggest the usefulness of MRI for assessing disease progression in patients with hyperKPP. This study is meaningful in terms of providing data showing the longitudinal changes of muscles in patients with periodic paralysis.

AB - Hyperkalemic periodic paralysis (hyperKPP) is a muscle channelopathy characterized by recurrent paralytic attacks. Our previous study, in which we conducted whole-body muscle magnetic resonance imaging (MRI) in patients with hyperKPP, revealed muscle atrophy and fatty change in the lower extremity, especially in older persons. The aim of current study was to identify the progression of myopathy in hyperKPP patients had been assessed in the previous study. We performed lower-extremity muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A gene at an interval of 30 months. Muscle atrophy, edematous change, fatty change, and fat fraction quantified using the Dixon technique were compared with the previous MRI findings. The lower-extremity MRI scan showed progressive muscle pathologic findings when compared with the previous study. Muscle atrophy, edematous change, and fatty change were prominent in the superficial posterior compartment of the lower leg. The follow-up lower-extremity muscle MRI findings provide evidence for chronic progressive myopathy and suggest the usefulness of MRI for assessing disease progression in patients with hyperKPP. This study is meaningful in terms of providing data showing the longitudinal changes of muscles in patients with periodic paralysis.

UR - http://www.scopus.com/inward/record.url?scp=85054131154&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85054131154&partnerID=8YFLogxK

U2 - 10.1016/j.nmd.2018.06.008

DO - 10.1016/j.nmd.2018.06.008

M3 - Article

C2 - 30172468

AN - SCOPUS:85054131154

VL - 28

SP - 837

EP - 845

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 10

ER -