Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report

• Published in: Medicine (Baltimore) 2020-07, Vol.99 (28), p.e20810-e20810
• Main Authors: Lee, Sook Joung, Choi, Eunseok, Shin, Soyoung, Park, Joonhong
• Format: Article
• Language: English
• Subjects: Braces - standards; Clinical Case Report; Dysferlin - genetics; Gait Disorders, Neurologic - etiology; High-Throughput Nucleotide Sequencing - methods; Humans; Male; Middle Aged; Muscle Weakness - etiology; Muscular Dystrophies, Limb-Girdle - genetics; Muscular Dystrophies, Limb-Girdle - pathology; Muscular Dystrophies, Limb-Girdle - therapy; Mutation; Occupational Therapy - methods; Patient Care Management - methods; Physical and Rehabilitation Medicine - methods
• ISSN: 0025-7974; 1536-5964
• DOI: 10.1097/MD.0000000000020810

The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive proximal muscle weakness and have more than 30 different subtypes linked to specific gene loci, which manifest as highly overlapping and heterogeneous phenotypes. A 59-year-old male presented for evaluation of progressive muscle weakness since his late twenties. When he was 38 years old, he had muscle weakness in the upper extremities and had a waddling gait, hyper lordosis of lower back, and anterior pelvic tilt. His gait disturbance and muscle weakness slowly progressed. When he was 55 years old, he could not walk at all and had to use a wheelchair for ambulation. Next-generation sequencing using a custom target capture-based gene panel including specific genes responsible for muscular dystrophy was performed. As a result, the proband was genetically diagnosed as LGMD type 2B, carrying 2 compound heterozygous mutations (NM_003494.3:c.1663C>T, p.Arg555Trp; rs377735262 and NM_003494.3:c.2997G>T, p.Trp999Cys; rs28937581) of the DYSF gene. Physical and occupational therapy were prescribed properly for the first time Bracing and assistive devices were adapted specifically to the patient's deficiencies to preserve mobility and function and prevent contractures. The patient with LGMD has periodic assessments of physical and occupational therapy for the prevention and management of comorbidities. However, in the 3 years after the gene panel sequencing diagnoses, his weakness was slowly progress and the patient still could not walk. Gene panel sequencing allows for the correct recognition of different LGMD subtypes, improving timely treatment, management, and enrolment of molecularly diagnosed individuals in clinical trials.