Diagnostic & Care Resources

LGMD Awareness Day Toolkit

The LGMD Awareness Foundation is on a mission to shine a global spotlight on limb-girdle muscular dystrophy (LGMD) and champion the cause for improved access to diagnosis, care, and treatment for those living with this condition. As we celebrate a decade of progress, we will be rolling out an Awareness Day Toolkit in spring of 2024, designed to empower and engage our community in advocacy like never before.

LGMD Awareness Day Toolkit

Spotlights

Explore our ‘Spotlights’ section, where we shine a light on the inspiring stories and invaluable contributions of individuals with LGMD, their dedicated caregivers, supporting organizations, and the clinicians who support them.

Accurate diagnosis and effective care are paramount for individuals with limb-girdle muscular dystrophy (LGMD). The “Diagnostic & Care Resources” page is meticulously curated to provide insights, guidance, and resources related to the diagnostic processes and care methodologies for LGMD. Whether you’re embarking on the diagnostic journey or seeking advanced care options, this guide aims to offer clarity, support, and direction, ensuring you’re equipped with the knowledge to make informed decisions.

GENETIC TESTING – DIAGNOSTIC RESOURCES

Do you think you have a form of Limb-Girdle Muscular Dystrophy (LGMD)? It is very important for you to get a genetically confirmed LGMD diagnosis. If your doctor tells you that you have an LGMD but doesn’t genetically confirm it, your diagnosis is incomplete. Knowing the exact form of LGMD or sub-type is important as there are health benefits for confirming an LGMD sub-type through genetic testing. Genetic testing can be performed with either a saliva or blood sample.

LGMD PATIENT REGISTRIES

Have you received confirmation of your LGMD sub-type diagnosis? Please consider having your name entered into a diagnosis specific “LGMD Patient Registry”.

Access a list of international LGMD Patient Registries

LGMD SPECIALISTS – PHYSICIANS

One of the challenges of living with a rare disease such as Limb Girdle Muscular Dystrophy (LGMD) is finding physicians and other health care specialists who have a good understanding of the disease process.

List of LGMD Specialists – LGMD GRASP Consortium

EXERCISE AND LGMD

Exercise and LGMD:

Having dystrophic muscles does not mean that exercise is necessarily bad.

Clinical studies in some LGMDs showed that moderate exercise, contrary to extreme exercise or no exercise, helps maintain muscle strength and therefore quality of life. This conclusion is in line with the feedback of people with LGMD. The challenge has been to define what represents moderate exercise for people with LGMD.

Swimming and water exercises is a good way to keep muscles toned without causing undue stress on the muscles and joints. Some physical therapy clinics offer special aquatic therapy. The buoyancy of the water helps protect against certain kinds of muscle strain and injury. Before undertaking any exercise program, make sure you contact your doctor. (And don’t swim alone.)

Here are some helpful resources regarding exercise and LGMD:

Pod-NMD –

Anna Mayhew, a world expert physical therapist in the UK, has launched an incredible free resource for the clinical community that also caters to patients.
It is an LGMD physical assessment resource designed to help physical therapists around the world learn best practices and tips to better care for and assess individuals with LGMD.
Click to access the website

Exercise advice for adults with muscle-wasting conditions

Muscular Dystrophy UK has this resource available which is full of tips and ideas to help people living with a neuromuscular condition, such as LGMD, stay as fit as they can.
Click to access the resource

B-FIT Training Guide

The B-FIT training guide supports health care professionals to prescribe personalized aerobic exercise.
The authors of the training guide are affiliated with the Department of Rehabilitation Medicine of Amsterdam UMC.
Click here to learn access the training guide.

Looking for Answers on Exercise

MDA Quest article from August 23, 2022
Click here to access the article

NORD RARE DISEASE CENTERS OF EXCELLENCE

The National Organization of Rare Disorders (NORD) has designated 31 Rare Disease Centers of Excellence nationwide. Each center offers the high-quality specialized care needed to help diagnose and manage complex rare diseases. Collaboration between these institutions creates critical new connections and improves access to best-in-class clinical care and resources.