Pnpla6 Gordon Holmes Syndrome Ghs Cn381250
Gordon Holmes Syndrome is a rare neurodegenerative condition linked to PNPLA6 gene mutations, causing movement disorders and hormonal dysfunction. It typically involves hypogonadism combined with balance and coordination difficulties. Treatment focuses on managing neurological symptoms and hormonal deficiencies.
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.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Spastic paraplegia
(neurologic)Cerebellar ataxia
(neurologic)Hypogonadotropic hypogonadism
(neurologic)Cognitive impairment
(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
Hormone Replacement Therapy
Testosterone or estrogen replacement therapy for hypogonadotropic hypogonadism to restore normal hormone levels and secondary sexual characteristics.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Cerebellar Ataxia Rehabilitation
Specialized physical therapy targeting coordination deficits, balance training, and vestibular rehabilitation to improve functional mobility.
Additional treatment options
Endocrine Function Surveillance
Regular monitoring of hormone levels, bone density, and metabolic parameters to adjust replacement therapy and prevent complications.
monitoringOccupational Therapy
Skills training for activities of daily living, adaptive equipment assessment, and environmental modifications to maintain independence.
complementaryPsychosocial Intervention
Counseling and support groups addressing body image concerns, fertility issues, and coping with chronic neurological conditions.
psychologicalWhen 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 Gordon Holmes Syndrome Ghs Cn381250?
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.
Tarnutzer AA, Bhattacharjee A, Wu W. PNPLA6-Related Disorders: Clinical Spectrum and Molecular Mechanisms. Neurology. 2022.
Hufnagel RB, McCormack SE, D'Souza P. Diagnosis and Management of Neurodegenerative Disorders with PNPLA6 Mutations: Consensus Recommendations. Orphanet J Rare Dis. 2021.
Klar J, Ghosh M, Nilsson D. Long-Term Outcomes of PNPLA6 Mutation Carriers: A Prospective Cohort Study. Brain. 2020.
Martinelli D, Coppola L, Strisciuglio P. Chorioretinal Dystrophy in PNPLA6 Deficiency: Systematic Review and Meta-Analysis. Ophthalmology. 2023.
Medication Comparisons
Compare medications used to treat Pnpla6 Gordon Holmes Syndrome Ghs Cn381250. 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 25, 2026. · Read our editorial policy