Healthcare Professionals – FAQ


Healthcare Professionals – FAQ

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Healthcare Professionals – FAQ

The Jain Foundation has conducted DYSF variant research, will collaborate with you and cross check whether there could be more detail about a specific variant in question to help determine the likelihood that it is pathogenic. Contact us at for help with DYSF VOUS analysis.

Jain Foundation staff, whose sole focus is dysferlinopathy, would be happy to discuss specific scenarios with you. Send an email to schedule a call at

The Jain Foundation developed a diagnostic assistant tool called “ALDA” which guides clinicians toward the most probable diagnosis using clinical symptoms in individuals suspected to have some kind of limb-girdle muscular dystrophy (LGMD).  Please visit the ALDA page, complete the questionnaire and email a copy of the report it generates as well as a summary of the de-identified patient background for review to  If the report passes our inclusion criteria, we will discuss your options for accessing Jain foundation sponsorship of genetic testing. If the report does not indicate dysferlinopathy, we can provide other suggestions for testing options.

Please see our Clinic Support Program page to request materials to offer your patients about the Dysferlin Registry and/or for your clinic to receive general LGMD advocacy materials to provide patients in clinic.

Standards of care specifically for individuals who have dysferlinopathy are being developed through sponsorship by the ENMC, dysferlinopathy focused clinicians and the Jain Foundation. If you would like to receive updates on the release of new standards or general updates about this initiative, let us know at  For general guidelines to the diagnosis and treatment of LGMDs refer to the existing Standards of Care document generated by the AAN and AANEM.

Clinician master classes on the topic of LGMDs are being organized by TREAT NMD. Please check the Treat-NMD masterclass website for dates and locations.  For more information, email

The Jain Foundation can help connect you with a clinician familiar with dysferlinopathy to discuss a specific case or explore other related topics. Send a request to

“Disease duration and disability in dysferlinopathy can be described by muscle imaging using heatmaps and random forests.” Gómez-Andrés D, Díaz J, Munell F, Sánchez-Montáñez Á, Pulido-Valdeolivas I, Suazo L, Garrido C, Quijano-Roy S, Bevilacqua JA., Muscle Nerve. 2019 Apr;59(4):436-444.

“Assessment of disease progression in dysferlinopathy: A 1-year cohort study,” Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, et al., Neurology. 2019 Jan 9. pii: 10.1212/WNL.0000000000006858. doi: 10.1212/WNL.0000000000006858.

“Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B.” Arrigoni F, De Luca A, Velardo D, Magri F, Gandossini S, Russo A, Froeling M, Bertoldo A, Leemans A, Bresolin N, D’angelo G. Muscle Nerve. 2018 Oct;58(4):550-558.

“Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.” Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, et al. J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081.

“Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.” Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, et al., J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1224-1226.

“Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan.” Umakhanova ZR, Bardakov SN, Mavlikeev MO, Chernova ON, Magomedova RM, Akhmedova PG, Yakovlev IA, Dalgatov GD, Fedotov VP, Isaev AA, Deev RV., Front Neurol. 2017 Mar 8;8:77.

“The Clinical Outcome Study for dysferlinopathy: An international multicenter study.” Harris E, Bladen CL, Mayhew A, James M, Bettinson K, et al., Neurol Genet. 2016 Aug 4;2(4):e89.

Currently, gene therapy for dysferlinopathy, as well as for several other subtypes of LGMD, is being developed by Sarepta Therapeutics. The Jain Foundation is also exploring numerous other potential therapeutic opportunities.

Individuals with dysferlinopathy are sometimes prescribed steroids because of the inflammation that is often seen on their muscle biopsy or because steroids, such as prednisone, is a common treatment for other forms of muscular dystrophy like Duchenne (DMD).  However, clinical studies and feedback from individuals with dysferlinopathy have shown that not only does daily high dose prednisone not help, it can be harmful to individuals with dysferlinopathy by causing further muscle weakness.   This additional weakness has been reported to be transient and resolves once the steroids are removed.  Therefore, long term daily high dose steroids is not recommended for those with dysferlinopathy.  However, short term use of steroids for the treatment of conditions unrelated to dysferlinopathy could be justified.