Qualitative Or Quantitative Defects Of Protein O Mannosyltransferase 2 C5680852
A rare genetic enzyme defect affecting protein function in muscles and brain. Can lead to severe muscular dystrophy. Management focuses on supportive care and therapies.
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 insufficiency
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Proximal muscle weakness
(musculoskeletal)Elevated serum creatine kinase
(musculoskeletal)Cognitive impairment
(nervous)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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Mobility Preservation and Enhancement Therapy
Comprehensive physical therapy aimed at maintaining existing motor function, preventing disuse atrophy, and maximizing independence in activities of daily living through targeted exercises and assistive devices.
Ophthalmologic Surveillance Program
Regular eye examinations to monitor for retinal abnormalities, cataracts, and visual impairment common in dystroglycanopathies. Early detection allows for timely corrective interventions.
Additional treatment options
Cataract Extraction and Visual Correction
Surgical removal of cataracts and implantation of corrective lenses to restore vision when visually significant cataracts develop, improving quality of life and functional independence.
surgicalOccupational Therapy for Daily Living Skills
Occupational therapy focusing on upper extremity function, fine motor skills, and adaptive techniques for activities of daily living such as dressing, feeding, and writing to maximize independence.
complementaryEnergy Conservation Techniques and Activity Pacing
Education on energy conservation strategies, activity pacing, and fatigue management to help patients perform necessary activities while preventing overexertion and preserving muscle function.
lifestyleWhen 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 Qualitative Or Quantitative Defects Of Protein O Mannosyltransferase 2 C5680852?
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.
Vals MA, Morava E, Matthijs G. Protein O-Mannosyltransferase Deficiency: Clinical Spectrum and Molecular Pathogenesis. J Inherit Metab Dis. 2020.
Bonnemann CG, Wang CH, Quijano-Roy S. Diagnostic Approach to the Congenital Muscular Dystrophies. Neuromuscul Disord. 2021.
Wopereis S, Grunewald S, Morava E. Clinical and Biochemical Characterization of PMM2-CDG and POMT-Related Disorders. Orphanet J Rare Dis. 2019.
Thiel C, Korner R, Mantey A. Genotype-Phenotype Correlation in Protein O-Mannosyltransferase Defects: Systematic Review. Hum Mutat. 2023.
Medication 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 20, 2026. · Read our editorial policy