Living with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
An inherited condition (Fukuyama type) that mainly affects the muscles, brain, and eyes, starting in early infancy.
Understanding Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Symptoms usually start in early infancy with a weak cry, feeding trouble, and low muscle tone. Muscle weakness and tight, bent joints (contractures) make it harder to sit, stand, or walk. Brain development is affected, and most people have intellectual disability. More than half have seizures. Severity ranges from mild to severe.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Muscle weakness (muscular dystrophy)
- Tight, bent joints (contractures)
- Delayed development and speech
- Seizures
- Nearsightedness (myopia)
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, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in FKTN 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 Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Muscular Dystrophy Association, Epilepsy 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 Muscular Dystrophy Association 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 FKTN gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cerebromuscular dystrophy, fukuyama type; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a4; congenital muscular dystrophy, fukuyama type; fcmd; fktn-related congenital muscular dystrophy; fukuyama congenital muscular dystrophy
Patient organizations
- Muscular Dystrophy AssociationMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 · United States
- Cure CMD - Congenital Muscular DystrophyMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 · United States
- Epilepsy FoundationEpilepsy · United States
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