Living with Myopathy, myofibrillar, 9, with early respiratory failure
An inherited muscle condition that affects movement muscles and breathing muscles, usually starting in adulthood.
Understanding Myopathy, myofibrillar, 9, with early respiratory failure
Signs usually appear in adulthood, often in the mid-thirties. Among the earliest signs are breathing problems and trouble walking. Weakness of the breathing muscles, especially the diaphragm, gets worse over time. Some people have foot drop. Muscles of the hips, thighs, upper arms, and neck can also become weak.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble breathing (dyspnea)
- Weak breathing muscles
- Changes in walking
- Foot drop
- Weak neck muscles
- Trouble breathing when lying flat (orthopnea)
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 TTN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Team Titin
- 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 TTN gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: admerf; distal myopathy with early respiratory muscle involvement; edstrom myopathy; edström myopathy; hereditary inclusion body myopathy with early respiratory failure; hereditary myopathy with early respiratory failure
Patient organizations
- Team TitinMyopathy, myofibrillar, 9, with early respiratory failure · United States
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