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. 2018 Aug 14;13(1):133.
doi: 10.1186/s13023-018-0859-6.

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Liang Wang  1 , Victor Wei Zhang  2   3 , Shaoyuan Li  3 , Huan Li  1 , Yiming Sun  4 , Jing Li  1 , Yuling Zhu  1 , Ruojie He  1 , Jinfu Lin  1 , Cheng Zhang  5
Affiliations

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Liang Wang et al. Orphanet J Rare Dis. .

Abstract

Background: Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles. Although the condition has been well-characterized, clinical and genetic heterogeneity can be observed in patients with LGMD. Here, we aimed to describe the clinical manifestations and genetic variability among a cohort of patients with LGMD in South China.

Results: We analyzed the clinical information, muscle magnetic resonance imaging (MRI) findings, and genetic results obtained from 30 patients (24 families) with clinically suspected LGMD. In 24 probands, 38 variants were found in total, of which 18 were shown to be novel. Among the 30 patients, the most common subtypes were dysferlinopathy in eight (26.67%), sarcoglycanopathies in eight [26.67%; LGMD 2C in three (10.00%), LGMD 2D in three (10.00%), and LGMD 2F in two (6.67%)], LGMD 2A in seven (23.33%), followed by LGMD 1B in three (10.00%), LGMD 2I in three (10.00%), and early onset recessive Emery-Dreifuss-like phenotype without cardiomyopathy in one (3.33%). Furthermore, we also observed novel clinical presentations for LGMD 1B, 2F, and 2I patients with hypermobility of the joints in the upper limbs, a LGMD 2F patient with delayed language development, and other manifestations. Moreover, distinct distributions of fatty infiltration in patients with LGMD 2A, dysferlinopathy, and the early onset recessive Emery-Dreifuss-like phenotype without cardiomyopathy were also observed based on muscle MRI results.

Conclusions: In this study, we expanded the clinical spectrum and genetic variability found in patients with LGMD, which provided additional insights into genotype and phenotype correlations in this disease.

Keywords: Clinical manifestation; Limb-girdle muscular dystrophy; Molecular diagnosis; Muscle magnetic resonance imaging; South China.

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Conflict of interest statement

Ethics approval and consent to participate

This study and all protocols used conformed to the ethical guidelines of the 1975 Declaration of Helsinki, as reflected in an a priori approval by the Human Research Committee of the Hereditary Neurological Disease Clinics of The First Affiliated Hospital, Sun Yat-sen University. Informed consent was obtained from each patient included in the study.

Consent for publication

The adult patients and the parents of the children described in this article provided consent for participation in the study and for publishing the obtained results.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Clinical and magnetic resonance imaging (MRI) results obtained for all patients included in the study. (a) Hypermobility of the metacarpophalangeal joints observed in proband 11. (b–e) Physical characteristics of proband 12. (b) Tongue hypertrophy. (c) Winged shoulder. (d) Neck contracture. (e) Ankle contracture and cavus feet. (f) Morton’s toe. (g–l) Muscle MRI results obtained for probands 3, 5, 9, 11, and 12. T1-weighted image, T2-weighted image, and fat-suppression T2-weighted image (left to right). MRI results of both thighs obtained for proband 3 (g), proband 5 (h), proband 9 (i), proband 11 (j), and proband 12 (k). (l) MRI results of both calves obtained for proband 12
Fig. 2
Fig. 2
Pedigrees of families with consanguineous marriages
Fig. 3
Fig. 3
Pedigrees of families with several patients
See this image and copyright information in PMC

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