Living with Brody myopathy
A muscle condition with cramping and stiffening after exercise, especially in the cold.
Understanding Brody myopathy
Symptoms typically begin in childhood. They are usually painless, though sometimes mildly uncomfortable, and muscles relax after a few minutes of rest. Arms, legs, and face muscles, especially the eyelids, are most often affected, and cold temperatures can make symptoms worse. In some people, exercise leads to muscle breakdown (rhabdomyolysis), which can turn urine red or brown.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle cramps after exercise
- Muscle stiffness after exercise
- Delayed motor development
- Difficulty running
- Muscle breakdown with red or brown urine (rare)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ATP2A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ATP2A1 gene cause this condition. It can be autosomal dominant or autosomal recessive.
Also known as: brody disease
Patient organizations
- Muscular Dystrophy AssociationBrody myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Brody myopathy.
Explore research for Brody myopathy
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