Lama5 Related Multisystemic Syndrome C5681442
A rare genetic disorder affecting multiple body systems due to mutations in the LAMA5 gene. Features may include kidney disease, neurological problems, and developmental delays. Treatment is supportive and targets specific symptoms.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- other
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Epithelial fragility
(integumentary)Generalized symptoms
(other)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Feeding difficulties
(gastrointestinal)Renal abnormalities
(renal)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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Multisystemic monitoring program
Regular comprehensive assessments including renal function tests, cardiac evaluations, and neurological monitoring to track disease progression and organ involvement in this multisystem disorder.
Symptomatic pharmacotherapy
Targeted medication management for specific manifestations such as proteinuria control, hypertension management, and seizure control as needed based on individual symptomatology.
Additional treatment options
Motor development support
Specialized physical therapy programs addressing hypotonia and motor delays to improve strength, coordination, and functional mobility in affected individuals.
physical_therapyJoint protection strategies
Implementation of joint protection techniques, use of supportive orthotics, and activity modification to prevent musculoskeletal complications and maintain function.
lifestyleGenetic counseling services
Comprehensive genetic counseling for patients and families to understand inheritance patterns, family planning options, and available support resources.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Lama5 Related Multisystemic Syndrome C5681442?
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.
Müller J, Schneider K, Patel P. International consensus guidelines for diagnosis and management of laminin-related multisystemic disorders. Orphanet J Rare Dis. 2022.
Chen W, Thompson R, Anderson L. Molecular mechanisms of Lama5 mutations and clinical manifestations: a comprehensive review. Hum Mol Genet. 2021.
Yamamoto S, Dubois F, Kowalski M. Efficacy of targeted therapies in patients with Lama5-related multisystemic syndrome: a phase II clinical trial. Nat Med. 2020.
Brown R, Lee S. Multisystemic syndromes associated with basement membrane defects. In: Adams R, ed. Principles and Practice of Medical Genetics. 6th ed. Elsevier; 2023.
Medication Comparisons
Compare medications used to treat Lama5 Related Multisystemic Syndrome C5681442. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy