Living with Fatal infantile hypertonic myofibrillar myopathy
A rare genetic muscle disease in infants with stiff muscles, weakness and trouble breathing, with normal thinking.
Understanding Fatal infantile hypertonic myofibrillar myopathy
It causes muscle stiffness and rigidity, weakness, and trouble breathing, while thinking skills stay normal. Symptoms begin after a short period of normal infant development. Breathing problems worsen over time. Blood tests show a lasting high level of creatine kinase.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff muscles (hypertonia)
- Muscle weakness
- Trouble breathing (respiratory insufficiency)
- Pauses in breathing (apnea)
- High creatine kinase in the blood
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 CRYAB 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 rare disease patient organizations for support
- 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 CRYAB gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy; mfm, fatal infantile hypertonic, alpha-b crystallin-related; mfm2b; myopathy, myofibrillar, 2b, infantile-onset
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Fatal infantile hypertonic myofibrillar myopathy.
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