The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants

Wang, Ning; Han, Xu; Hao, Shengpu; Han, Jingzhe; Zhou, Xiaomeng; Sun, Shaomei; Tang, Jin Bo; Lu, Yang; Wu, Hongran; Ma, Shuping; Song, Xueqin; Ji, Guang

doi:10.1186/s12883-022-02905-w

Cited by 3 publications

(1 citation statement)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Clinical Features across Dysferlinopathies Disease Spectrum. The table summarizes the main features and differences of the three major and two less frequently observed phenotypes within the spectrum of dysferlinopathies [22,23,29,32,34,[44][45][46][47][48][49][50][51][52][53][54][55][56][57][58][59]. Once affected, certain muscles, e.g., the gastrocnemius, soleus, and subscapularis, are especially vulnerable in dysferlinopathies, while others like the elevator scapulae are less affected-the reason underneath is not well understood though [23,60].…”

Section: Dysferlinopathies: Clinical Landscape and Phenotypic Variabi...mentioning

confidence: 99%

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Anwar,

Yokota

2023

Preprint

View full text Add to dashboard Cite

Dysferlinopathies comprise a spectrum of muscular dystrophies characterized by progressive muscle weakness and degeneration due to mutations in the DYSF gene, which encodes the dysferlin protein critical for muscle membrane repair. This review delves into the clinical spectra of dysferlinopathies, their molecular mechanisms, and the spectrum of emerging therapeutic strategies. We explore the phenotypic heterogeneity of dysferlinopathies, highlight the incomplete understanding of genotype-phenotype correlations, and discuss the implications of various DYSF mutations. Furthermore, we examine the utility of animal models in elucidating disease mechanisms and the potential of symptomatic, pharmacological, molecular, and genetic therapies in mitigating the disease's progression. We also consider the roles of diet and metabolism in managing dysferlinopathies, as well as the impact of clinical trials on treatment paradigms. By culminating the complexities inherent in dysferlinopathies, this article emphasizes the need for multidisciplinary approaches, precision medicine, and extensive collaboration in research and clinical trial design to advance our understanding and treatment of these challenging disorders.

show abstract

Section: Dysferlinopathies: Clinical Landscape and Phenotypic Variabi...mentioning

confidence: 99%

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Anwar,

Yokota

2023

Preprint

View full text Add to dashboard Cite

show abstract

Diagnosis of dysferlinopathy masked by a superimposed hypothyroid myopathy

Benn,

Bhalala,

Day

et al. 2024

BMJ Case Rep

View full text Add to dashboard Cite

We report a woman in her 30s with dysferlinopathy whose diagnosis was masked by superimposed hypothyroidism. Laboratory studies revealed Hashimoto’s thyroiditis and markedly raised serum creatine kinase (CK of 6255 U/L; reference range 0–170 U/L). Electromyography, nerve conduction studies and MRI of the hip and thigh were consistent with a diagnosis of hypothyroid myopathy, but thyroxine failed to resolve her clinical presentation or normalise the CK level. Immunohistochemical (IHC) staining of right vastus lateralis muscle biopsy revealed the selective absence of dysferlin leading to a diagnosis of limb-girdle muscular dystrophy type IIB. Dysferlinopathy is a challenging diagnosis due to a varied clinical picture and low incidence. Misdiagnosis is common even in uncomplicated presentations, and this case outlines the need for routine inclusion of IHC and a low threshold for genetic testing, in the workup of complex myopathy.

show abstract

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Anwar,

Yokota

2024

Biomolecules

View full text Add to dashboard Cite

Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This review delves into the clinical spectra of dysferlinopathies, their molecular mechanisms, and the spectrum of emerging therapeutic strategies. We examine the phenotypic heterogeneity of dysferlinopathies, highlighting the incomplete understanding of genotype-phenotype correlations and discussing the implications of various DYSF mutations. In addition, we explore the potential of symptomatic, pharmacological, molecular, and genetic therapies in mitigating the disease’s progression. We also consider the roles of diet and metabolism in managing dysferlinopathies, as well as the impact of clinical trials on treatment paradigms. Furthermore, we examine the utility of animal models in elucidating disease mechanisms. By culminating the complexities inherent in dysferlinopathies, this write up emphasizes the need for multidisciplinary approaches, precision medicine, and extensive collaboration in research and clinical trial design to advance our understanding and treatment of these challenging disorders.

show abstract

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants

Cited by 3 publications

References 41 publications

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Diagnosis of dysferlinopathy masked by a superimposed hypothyroid myopathy

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Contact Info

Product

Resources

About