Muscular Dystrophy Dystroglycanopathy Congenital With Intellectual Disability Type B14 C3809221
A genetic form of congenital muscular dystrophy with brain involvement. Causes muscle weakness from infancy and varying degrees of intellectual disability.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Motor developmental delay
(musculoskeletal)Cognitive impairment
(musculoskeletal)Growth retardation
(musculoskeletal)Ophthalmic abnormalities
(musculoskeletal)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Physical Therapy
Comprehensive physical therapy program focusing on maintaining muscle strength, preventing contractures, and supporting developmental milestones through age-appropriate exercises and positioning.
Cardiac and Respiratory Monitoring
Regular cardiac evaluations including echocardiograms and EKGs, along with pulmonary function testing to detect and manage cardiac complications and respiratory muscle weakness early.
Additional treatment options
Nutritional Support and Management
Customized nutritional planning to maintain healthy weight, support muscle function, and prevent aspiration risks. May include consultation with a dietitian specializing in neuromuscular disorders.
dietaryPsychological Support and Behavioral Therapy
Mental health support addressing cognitive challenges, behavioral concerns, and emotional well-being. Includes family counseling to support caregivers and siblings.
psychologicalAssistive Device Assessment
Evaluation for and provision of assistive devices including braces, wheelchairs, and communication aids to maximize independence and quality of life.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Muscular Dystrophy Dystroglycanopathy Congenital With Intellectual Disability Type B14 C3809221?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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 25, 2026. · Read our editorial policy