Primary dysferlinopathies are a rare heterogeneous group of autosomal recessive muscular dystrophies that are caused by mutations in the exon gene. Although no specific therapies exist for dysferlinopathies, these disorders entail multiple pathways to muscle cell death, each of which is potentially a target for. The clinical phenotype of the dysferlinopathies is quite variable. Affected individuals usually present with early involvement of the posterior calf muscles ( Miyoshi.

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Weakness, wasting and atrophy are commonly observed Figure 1 [ 133738 ].

What are Dysferlinopathies?

The offspring of an individual with dysferlinopathy are obligate heterozygotes carriers for a pathogenic variant in DYSF. An alternative genetic testing strategy is pahties of a multigene panel that includes DYSF and other genes of interest see Differential Diagnosis.

Studies have shown that there are differences between the two models regarding the muscles affected and how the disease progresses [ ]. It accumulates at an pathjes site of patients with muscular dystrophy in response to oxidative stress different from dysferlin and the membrane repair complex apparently targets the longitudinal T-tubules where there is membrane damage [ 8, ].


Inflammatory myopathy is sometimes misdiagnosed because inflammatory infiltrates are observed at the earlier stages of the disorder [ 13142628 – 30 ]. Sequence analysis dysfetlin variants that are benign, likely benign, of uncertain significancelikely pathogenic, or pathogenic.

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that i credit for source http: The weakness and atrophy may be asymmetric with any of these presentations.


The muscles earlier ddysferlin are the gastrocnemius medialis and adductor magnus. A new phenotype of dysferlinopathy with congenital onset.

A similar change happens with cavin. Diagnosis Dysferlinopathy caused by DYSF pathogenic variants includes a spectrum of muscle disease characterized mainly by two phenotypes: Miyoshi muscular dystrophy 1. dysfeelin

The psychological development is normal and many of them have university degrees [ 13 – 1536 – 39 ]. After six months of treatment, muscle strength did not improve; rather, there was a trend towards worsening muscle strength for affected individuals on deflazacort treatment. Absence of dysferlin in most of the fibers. Limb-girdle muscular dystrophy syndrome.

The allelic heterogeneity is revealed by point mutations, deletions, insertions and frame-shift mutations that have been described among most of the deleterious mutations or non pathogenic polymorphisms reported to the Leiden Muscular Dystrophy database http: Many years after onset the patients are unable to stand from squatting position [ 1314 ].

Undoubtedly, the mutations in native Canadians [ 20 ], Libyan Jews [ 51 ] and Jews of the Caucasus [ ] were caused by endogamy.

An increased frequency of rhabdomyosarcomas was also observed [ ]. The two dimensional longitudinal strain imaging by the automated dyxferlin imaging AFI technique shows subclinical involvement of the dyssferlin.

Individualized management may include physical therapy, use of mechanical aids, surgical intervention for orthopedic complications, respiratory aids, and social and emotional support. Involvement of the heart muscles is less common in type 2B than in other forms of limb girdle muscular dystrophy. There are other non murine models that are being used. Inflammation is not only observed in the biopsies of dysferlinopathies, but also in polymyositis and dysfelrin muscular dystrophies such as Duchenne muscular dystrophy and fascioscapulohumeral dystrophy.


The diagnosis is made by the absence or reduced dysferlin in muscle by immunohistochemistry or immunoblotting [ 1332 ].


Offspring of a proband. Elevated serum CK concentration only. Over a period of years, the weakness and atrophy spread to the thighs and gluteal muscles. Genes and Databases for chromosome locus and protein.

The shoulder girdle muscles are later involved during the progression of the disease. Hypertrophied cardiomyocytes with swollen nuclei and severe diffuse perivascular and interstitial fibrosis can be observed [ 43 ]. Most individuals with DYSF pathogenic variants show complete deficiency of the protein or sometimes patchy sarcolemmal and cytoplasmic staining on muscle biopsy. The other members of the family in mammals are otoferlin Fer-1L2; 2p Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.

It is a binding protein which co-localizes with dysferlin and ILK integrin linked kinase at the sarcolemma. B Dysferlin is absent while is present in control biopsies.

While affixin is reduced from the sarcolemma its total amount remains normal.