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Useful information

Where to find information about FKRP-related conditions

Cure CMD

Cure CMD is a patient organisation that is dedicated to bringing research, treatments and hopefully a cure for congenital muscular dystrophies.

EURORDIS

EURORDIS is a non-governmental patient-driven alliance of patient organisations representing over 600 disease patients organisations in 58 countries. They seek to improve the quality of life of people living with rare disease in Europe through advocacy, support for research, networking and raising awareness.

Limb Girdle Muscular Dystrophy 2I

The Limb Girdle Muscular Dystophy 2I website is a great resource for people looking for more information about the condition and how to manage it.

LGMD2I Research Fund

The LGMD2I Research Fund is a non-profit organization focused in expediting the discovery of new treatments for LGMD2I.

Muscular Dystrophy Association (MDA)

MDA is a non-profit health agency dedicated to finding treatments and cures for muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Muscular Dystrophy Campaign (MDC)

The MDC is the leading UK charity focusing on muscular dystrophy and other related conditions. They are dedicated to beating muscular dystrophy and other related conditions by finding treatments and cures and to improving the lives of everyone affected by them.

National Organisation for Rare Disorders (NORD)

NORD is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

Samantha J. Brazzo Foundation

The Samantha J. Brazzo Foundation has joined forces with the LGMD2I Research Fund, Cure CMD and the Stevenson Family Fund to support research specifically towards a treatment or cure for LGMD2I.

TREAT-NMD Alliance

TREAT-NMD is an international network for the neuromuscular field that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible.

LGMD2I Facebook Page

The page has been set up by Lacey Woods as a way of forming a community and sharing experiences with others affected by LGMD2I. You will need to have an active account on Facebook to login.

LGMD2I Facebook page

Congenital Muscular Dystrophy Consensus Guidelines

The CMD Consensus Guidelines represent the efforts of an international CMD clinical consortium led by Dr. Ching Wang, Dr. Thomas Sejersen and Dr. Anne Rutkowski and was made possible through the generous support of TREAT-NMD, AFM, Telethon and Cure CMD.

The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/nutrition/speech/oral care, cardiology, and palliative care.

A Family Guide has been produced (based on the full academic article) and is a foundation of information for families so that individuals and families can use it in collaboration with their care providers to discuss their own specific needs.

General information about patient registries

If you have any more general questions about patient registries, you may like to view the “Registries - Frequently Asked Questions” section of the main TREAT-NMD Alliance website.

Congenital Muscle Disease International Registry (CMDIR)

The Congenital Muscle Disease International Registry, including Congenital Muscular Dystrophy, Congenital Myopathy, and Congenital Myasthenic Syndrome, was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure.   The CMDIR registers through the limb girdle spectrum for all three disease groups.

If you have Congenital Muscular Dystrophy (CMD) not related to an FKRP mutation, or if the underlying gene mutation is not yet known, please register on the CMDIR. It is not necessary to register on both.

LGMD subtyping tool

There is a free online tool to help guide doctors toward the most probable diagnosis for patients who fall into the LGMD category, called the Automated LGMD Diagnostic Assistant (ALDA). This tool predicts the most likely type(s) of LGMD a patient may have based on clinical presentation and laboratory findings.

If you are a patient interested in using the LGMD diagnostic tool, please contact either your doctor or the LGMD2I Research Fund to help guide you through the process.

Click here to use the LGMD Diagnostic Tool

McColl Lockwood Laboratory for Muscular Dystrophy Research

The McColl Lockwood Laboratory for Muscular Dystrophy Research was set-up to develop experimental therapies for the treatment of the muscular dystrophies and to facilitate the translation of experimental therapies to clinical trials for improving the quality of life for patients with the disease.