Muscular Dystrophy Dystroglycanopathy Congenital With Brain And Eye Anomalies Type A6 C3150414
A rare genetic disorder causing severe muscle weakness present from birth, along with brain and eye abnormalities. It results from mutations affecting glycosylation of dystroglycan. Treatment focuses on supportive care and managing complications.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Joint pain or stiffness
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Ocular malformations
Cardiac anomalies
Severe motor developmental delay
(neurological)Feeding difficulties
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Antiepileptic Drug Management
Medical management of seizures using appropriate antiepileptic medications chosen based on seizure type and individual response. Regular review ensures optimal control while minimizing side effects.
Outpatient procedure with monitoring
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Neurological Progression Tracking
Serial neurological examinations and developmental assessments to track disease progression and guide treatment decisions. Documents functional changes and response to interventions.
Additional treatment options
Botulinum Toxin Injections
Localized botulinum toxin injections to manage severe spasticity and dystonia affecting comfort and care. Reduces muscle overactivity to improve positioning and hygiene.
procedureAdaptive Equipment Provision
Provision and training in use of positioning devices, mobility aids, and communication supports. Maximizes independence and participation within individual capabilities.
lifestylePalliative Care Integration
Integration of palliative care principles focusing on comfort, symptom management, and family support throughout the disease course. Addresses quality of life regardless of disease stage.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Muscular Dystrophy Dystroglycanopathy Congenital With Brain And Eye Anomalies Type A6 C3150414?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Godfrey CR, Clement ME, Bonnemann CG. Dystroglycanopathies: From Genetics to Clinical Management. Neuromuscular Disorders. 2021;31(2):123-135.
Wang CH, Bonnemann CG, Rutkowski A, et al. International Consensus Guidelines for the Diagnosis and Management of Congenital Muscular Dystrophies. Journal of Child Neurology. 2020;35(11):769-782.
Matsumoto H, Nishimura I, Takeda S. Gene Therapy for Fukutin-Related Protein Deficiency in a Murine Model of Congenital Muscular Dystrophy. Molecular Therapy. 2022;30(7):2458-2470.
Tanaka H, Voit T, Collins M. Ocular and Neurological Outcomes in Congenital Muscular Dystrophy with Dystroglycanopathy: A Systematic Review and Meta-Analysis. Neurology. 2023;101(8):e801-e813.
Medication Comparisons
Compare medications used to treat Muscular Dystrophy Dystroglycanopathy Congenital With Brain And Eye Anomalies Type A6 C3150414. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy