PMMs

What are Primary Mitochondrial Myopathies (PMMs)?

Primary mitochondrial myopathies (PMMs) are a group of rare, often life-threatening disorders caused by genetic mutations either within the mitochondrial or nuclear DNA affecting the energy needs of skeletal muscles. PMMs may present at any age and patients who manifest these diseases early in life often experience severe symptoms.


PMM can vary from person to person, even within the same family, and can affect major muscle groups that are used for walking, climbing, lifting objects or other everyday activities, and maintaining posture. High energy tissues like our heart, brain, and muscle are most affected by mitochondrial disorders.


Patients with PMM report mild to chronic fatigue, muscle pain, cramps, and a lack of endurance. Functional muscle impairment is also evident in smaller muscle groups that control, for example, movements of the eyes and eyelids and alterations in other muscles of the face and neck, which can lead to difficulty with swallowing and, more rarely, slurred speech.


Patients with PMM often receive dietary and nutritional supplements and are prescribed physical therapy exercise regimens.


Currently, there are no approved drugs for treatment of PMMs.

Resources for Patients

Reneo collaborates with rare disease patient organizations. These organizations support patients, families and caregivers and participate in research, advocacy and education efforts.

Mito Foundation

Mito Foundation supports people affected by mitochondrial disease (mito), funds essential research into the prevention, diagnosis, treatment and cures of mitochondrial disorders, and increases awareness and education about this devastating disease.
mito.org.au

The United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders, and provides support to affected individuals and families.
UMDF

MitoAction.org

MitoAction.org’s mission is centered on improving the quality of life for children, adults, and families living with mitochondrial disease by providing support, education, advocation, and clinical research initiatives. 
MitoAction.org

The Mito Canada Foundation

The Mito Canada Foundation is a charitable organization formed by Canadian parents whose families have been impacted by mitochondrial disease. The foundation helps others living with the disease find hope through knowledge, support, and a focus on raising public awareness toward advancing Canadian research activities.
Mito Canada Foundation

The Lily Foundation

The Lily Foundation, a UK mitochondrial disease charity, is focused on improving the lives of people affected by mitochondrial diseases by providing support, raising public awareness, and funding scientific research to advance treatments and cures.
Lily Foundation