A pilot investigation of muscle integrity in patients with ADSSL1 myopathy using electrical impedance myography

被引：1

作者：

Farid, Alexander Rashad ^{[1
]}

Golden, Emma ^{[1
]}

Hu, Alice ^{[2
]}

Robicheau, Sara ^{[2
]}

Rutkove, Seward ^{[3
]}

Al-Hertani, Walla ^{[4
]}

Upadhyay, Jaymin ^{[1
,5
,6
]}

机构：

[1] Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USA

[2] Myolex Inc, Boston, MA USA

[3] Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA USA

[4] Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA

[5] Harvard Med Sch, McLean Hosp, Dept Psychiat, Boston, MA USA

[6] Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, 1 Autumn St, Boston, MA 02115 USA

来源：

MUSCLE & NERVE | 2023年 / 68卷 / 05期

关键词：

ADSSL1; myopathy; biomarker; electrical impedance myopathy; muscle integrity; muscle weakness;

D O I：

10.1002/mus.27971

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Introduction/Aims: ADSSL1 myopathy (OMIM 617030) is a recently discovered, congenital myopathic disease caused by a pathogenic variant in ADSSL1. ADSSL1 is an enzyme involved in the purine nucleotide process and facilitates the conversion of inosine monophosphate to adenosine monophosphate within myocytes. Electrical impedance myography (EIM) is a portable, non-invasive, and cost-effective method for characterizing muscle integrity. Three ADSSL1 patients are presented in whom characterization of muscle integrity using EIM was performed.Methods: A 15-y-old male, 20-y-old female, and 63-y-old male each with a pathogenic variant in ADSSL1 [c.901G > A] as well as three, age-gender matched healthy controls (HCs) were enrolled. Study participants were phenotyped using a virtual EIM procedure.ResultsADSSL1 myopathy patients presented with variable onset of physical disability, disease progression, and severity of muscle weakness. Across multiple proximal and distal muscles groups and relative to HCs, ADSSL1 myopathy patients demonstrated lower phase and reactance values, while resistance was higher, which together indicated diseased muscle.Discussion: EIM can provide a novel, non-invasive and objective biomarker to evaluate muscle integrity in patients with ADSSL1 myopathy. Combining EIM with musculoskeletal imaging and histologic assessments in follow-up studies may further inform on the pathophysiology of ADSSL1 myopathy.

引用

页码：775 / 780

页数：6