Welcome to Cases Database | Log on

Cases Database

Advanced search
General search
Type your search terms in the empty boxes, one or more per box. As you type within the search box our autocomplete function suggests search terms that might be similar to the one you're typing.  You can select your chosen term from the drop down list or simply complete typing your term into the search box.
 
Wildcard and Boolean searches
Wildcard search, using * to take the place of any number of characters. Boolean queries, using AND, OR and NOT. Brackets may be used to make the order of the Boolean clauses clear.
 
Field-specific searches
Field-specific searches, with a field name separated by a colon from the field value being searched for, such as Sex:Female or Ethnicity:Caucasian. The available fields are: Sex, Ethnicity, AuthorCountry, TitleAbstract, Journal, PublicationYear, AllText, Condition, Symptom, Medication, Intervention, Pathogen and SubjectArea. It is important that the field name is spelled exactly as given here.
 
Numeric ranges
Field-specific numeric range searches, such as Age:20-50. These can omit the higher or the lower bound, so a query of Age:20- will find all patients of 20 years or older, and a query of Age:-50 will give all patients up to 50 years old.
 
Saving  searches
After you have run a search registered users can use the “Save search” function to either store the search in My Cases or setup an email alert that will run the search every 7, 14, or 30 days.

Case report

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

Summary

Introduction

Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene. However, many of the late-onset limb-girdle and distal myopathies that resemble dysferlinopathy or Miyoshi myopathy remain unclassified, even after extensive immunohistological and genetic analysis.

Case presentation

We report the case of a 59-year-old Caucasian man with distal myopathy and exercise-induced myalgia, preferentially of the leg muscles, closely resembling the Miyoshi phenotype. Magnetic resonance imaging of his calf muscles showed typical fatty replacement of the medial heads of the gastrocnemius muscles and soleus muscles, with progression to the adductor longus muscles over a time course of two years. However, genetic analysis revealed that the phenotype of our patient was not related to a mutation in the dysferlin gene but to a novel homozygous splice mutation in the anoctamin 5 gene. Mutations in the anoctamin 5 gene have so far been identified only in some cases of limb-girdle and distal myopathy. Mutations in the anoctamin 5 gene have been assigned to limb-girdle muscular dystrophy type 2L, while distal Miyoshi-like phenotypes have been classified as Miyoshi myopathy type 3.

Conclusion

The case presented in this report further strengthens the underlying genetic heterogeneity in Miyoshi myopathy-like phenotypes and adds another family to non-dysferlin, Miyoshi myopathy type 3 of late-onset. Furthermore, our case supports the recent observation that anoctamin 5 mutations are a primary cause of distal non-dysferlin myopathies. Therefore, given the increasing number of anoctamin 5 mutations in Miyoshi-like phenotypes, genetic analysis should include an anoctamin 5 screen in late-onset limb-girdle and distal myopathies.

Images

Source

Open Access

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

Clemens Neusch, Tanja Kuhlmann, Wolfram Kress, Christiane Schneider-Gold
Journal of Medical Case Reports 2012, 6:345 doi:10.1186/1752-1947-6-345

Related cases

Loading...