Muscle biopsy practices in the evaluation of neuromuscular disease: A systematic literature review

Abstract

Aims: Muscle biopsy techniques range from needle muscle biopsy (NMB) and conchotome biopsy to open surgical biopsy. It is unknown whether specific biopsy techniques offer superior diagnostic yield or differ in procedural complication rates. Therefore, we aimed to compare the diagnostic utility of NMB, conchotome and open muscle biopsies in the assessment of neuromuscular disorders.

Methods: A systematic literature review of the EMBASE and Medline (Ovid) databases was performed to identify original, full-length research articles that described the muscle biopsy technique used to diagnose neuromuscular disease in both adult and paediatric patient populations. Studies of any design, excluding case reports, were eligible for inclusion. Data pertaining to biopsy technique, biopsy yield and procedural complications were extracted.

Results: Sixty-four studies reporting the yield of a specific muscle biopsy technique and, or procedural complications were identified. Open surgical biopsies provided a larger tissue sample than any type of percutaneous muscle biopsy. Where anaesthetic details were reported, general anaesthesia was required in 60% of studies that reported open surgical biopsies. Percutaneous biopsies were most commonly performed under local anaesthesia and despite the smaller tissue yield, moderate- to large-gauge needle and conchotome muscle biopsies had an equivalent diagnostic utility to that of open surgical muscle biopsy. All types of muscle biopsy procedures were well tolerated with few adverse events and no scarring complications were reported with percutaneous sampling.

Conclusions: When a histological diagnosis of myopathy is required, moderate- to large-gauge NMB and the conchotome technique appear to have an equivalent diagnostic yield to that of an open surgical biopsy.

Keywords: diagnosis; muscle biopsy; myopathy; neuromuscular disease.

FIGURE 1

Types of muscle biopsy. Note: n = number of studies of each muscle biopsy technique included in this review.

FIGURE 2

PRISMA flowchart of study selection process.

FIGURE 3

Site of muscle biopsy. (A) The range of muscles sampled using various muscle biopsy techniques. (B) Muscle selection strategies employed for various muscle biopsy techniques. ‘Fine’, ‘moderate’ and ‘large’ refer to needle biopsy size. Cohorts in which the needle size was not described have been excluded. N: number of biopsies; n: number of studies; NR: not reported.