Living with Bailey-Bloch congenital myopathy
An inherited muscle condition with weakness and low muscle tone from birth and a risk of a reaction to some anesthesia.
Understanding Bailey-Bloch congenital myopathy
People have muscle weakness and low muscle tone throughout the body, usually from birth. Infants may have feeding and swallowing problems and delayed motor skills. Many have a droopy-eyelid facial look, and some have a small lower jaw or cleft palate. People are shorter than their peers. There is a risk of a severe reaction to some anesthesia drugs, called malignant hyperthermia.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Muscle weakness
- Drooping upper eyelids (ptosis)
- Feeding difficulties
- Curved spine (scoliosis or kyphosis)
- Reaction to some anesthesia (malignant hyperthermia)
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, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in STAC3 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 and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association, World Craniofacial Foundation
- 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 Malignant Hyperthermia Association of the United States 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
It is caused by changes in the STAC3 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cmyo13; congenital myopathy 13; congenital myopathy-cleft palate-malignant hyperthermia syndrome; congenital myopathy, cleft palate. malignant hyperthermia syndrome; myopathy, congenital, baily-bloch; stac3 disorder
Patient organizations
- Malignant Hyperthermia Association of the United StatesBailey-Bloch congenital myopathy · United States
- Muscular Dystrophy AssociationBailey-Bloch congenital myopathy · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Bailey-Bloch congenital myopathy.
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