Living with Myopathy, myofibrillar, 13, with rimmed vacuoles
A rare inherited nerve and muscle condition with slowly worsening weakness that begins in the legs.
Understanding Myopathy, myofibrillar, 13, with rimmed vacuoles
It combines a nerve problem affecting the legs with a muscle condition. It typically starts in the second or third decade of life. Weakness and muscle shrinking slowly get worse, first in the lower legs, and later in the upper limbs and the trunk. The breathing and heart muscles are not involved.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower legs
- Foot drop
- Trouble climbing stairs
- Changes in walking
- Reduced or absent reflexes
- Trouble with exercise
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 HSPB8 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
The Foundation for Peripheral Neuropathy 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: The Foundation for Peripheral Neuropathy
- 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 Cure MFM13 and other patient organizations
- 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
GARD lists changes in the HSPB8 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome; autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome; hspb8-associated autosomal dominant rimmed vacuolar myopathy; hspb8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome; limb-girdle rimmed vacuolar myopathy; mfm13
Patient organizations
- Cure MFM13Myopathy, myofibrillar, 13, with rimmed vacuoles · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Myopathy, myofibrillar, 13, with rimmed vacuoles.
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