Muscular Dystrophy Dystroglycanopathy Congenital With Intellectual Disability Type B1 C5436962
A severe congenital muscular dystrophy caused by genetic mutations affecting muscle and brain development. Presents with weakness at birth and 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.
Warning signs - seek immediate care
Respiratory failure
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Muscle hypotonia
(musculoskeletal)Developmental delay
(musculoskeletal)Feeding difficulties
(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
Active and passive range of motion exercises
Therapeutic exercises including both patient-assisted and therapist-guided movements help maintain joint flexibility, reduce stiffness, prevent contractures, and support circulation throughout the body.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Anti-inflammatory and muscle relaxant therapy
Pharmacologic management with anti-inflammatory agents and muscle relaxants may be prescribed to address muscle inflammation, pain, and spasticity associated with the muscular dystrophy phenotype.
medicationIntellectual disability support services
Specialized educational programs, speech therapy, and cognitive interventions designed to maximize communication abilities, adaptive skills, and intellectual functioning within each individual's capabilities.
psychologicalNutrition optimization and weight management
Balanced nutritional support with adequate protein, vitamins, and minerals to support muscle function, combined with caloric management to prevent obesity which can further impair mobility.
dietaryRespiratory function surveillance
Regular pulmonary function testing, overnight oximetry, and sleep studies to monitor for respiratory muscle weakness and nocturnal hypoventilation, with early intervention using non-invasive ventilation if needed.
monitoringWhen 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 B1 C5436962?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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 27, 2026. · Read our editorial policy