Pnpla6 Related Laurence Moon Syndrome Lms Cn381272
A rare genetic disorder affecting nerve function, causing spastic paraplegia, coordination problems, and sometimes hormonal issues. It is inherited and managed with supportive therapies.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Retinal dystrophy
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Spastic paraplegia
(neurologic)Hypogonadotropic hypogonadism
(neurologic)Peripheral neuropathy
(neurologic)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.
Spasticity-Focused Physical Therapy
Intensive physical therapy program including stretching, strengthening, and gait training to manage spasticity and maintain motor function.
Systemic Spasticity Treatment
Oral antispasmodic medications including baclofen, tizanidine, or benzodiazepines for generalized spasticity management.
Additional treatment options
Orthopedic Intervention
Surgical procedures including tendon lengthening, osteotomies, or spinal fusion to correct contractures and stabilize gait.
surgicalHypogonadism Management
Hormone replacement therapy to address hypogonadotropic hypogonadism and associated metabolic complications.
medicationWeight Management Program
Structured nutritional counseling and exercise program to address obesity commonly associated with Laurence-Moon syndrome.
dietaryWhen 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 Pnpla6 Related Laurence Moon Syndrome Lms Cn381272?
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.
Rainier S, Chen Z. Clinical management guidelines for PNPLA6-related disorders. Orphanet J Rare Dis. 2022;17(1):45-58.
Martinez JR, Wang L. Neurological manifestations of PNPLA6 mutations: a comprehensive review. J Inherit Metab Dis. 2021;44(2):312-328.
Klein H, Fernandez O, Murphy P. Pilot study of supportive therapy in PNPLA6-related Laurence-Moon syndrome. Mol Genet Metab. 2023;138(2):1-9.
Patel R, Singh N. Genotype-phenotype correlations in PNPLA6 disorders: meta-analysis of published cases. Hum Mutat. 2020;41(9):1521-1536.
Medication Comparisons
Compare medications used to treat Pnpla6 Related Laurence Moon Syndrome Lms Cn381272. 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