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Danon disease
ICD-10 Codes
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Description
Danon Disease: A Rare Genetic Condition
Danon disease, also known as Danon muscular dystrophy, is a rare genetic disorder that affects multiple organ systems in the body. The condition is characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal myopathy), and damage to the brain.
Key Features:
- X-linked dominant inheritance pattern: Danon disease is inherited in an X-linked dominant manner, meaning that males are more severely affected than females.
- Lysosomal storage disorder: The condition is a type of lysosomal storage disorder, caused by mutations or deletions on the X chromosome.
- Cardiovascular, skeletal, and central nervous system involvement: Danon disease affects multiple organ systems, including the heart, muscles, and brain.
Symptoms:
- Cardiomyopathy (weakening of the heart muscle)
- Skeletal myopathy (weakening of the muscles used for movement)
- Brain damage
- Other symptoms may include muscle weakness, fatigue, and respiratory problems
References:
- [1] Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal myopathy; [2]
- [3] Danon disease is a rare genetic disorder characterized by an X-linked dominant inheritance pattern, so males are more severely affected than females; [4]
- [5] Danon Disease is a rare, genetic condition resulting from a genetic mutation or deletion on the X chromosome. It is a type of lysosomal storage disorder; [6]
- [7] In summary, Danon disease is a rare cardiac and skeletal muscle disorder caused by LAMP2 mutations and presenting with systemic symptoms of cardiomyopathy, myopathy, and variable brain involvement; [8]
Note: The above information is based on the search results provided in the context.
Additional Characteristics
- Danon disease
- Fatigue
- Respiratory problems
- Muscle weakness
- Brain damage
- X-linked dominant inheritance pattern
- Lysosomal storage disorder
- Cardiovascular, skeletal, and central nervous system involvement
- Cardiomyopathy (weakening of the heart muscle)
- Skeletal myopathy (weakening of the muscles used for movement)
Signs and Symptoms
Signs and Symptoms of Danon Disease
Danon disease, also known as Danon muscular dystrophy, is a rare genetic disorder that affects multiple systems in the body. The signs and symptoms of Danon disease can vary from person to person, but they often include:
- Cardiomyopathy: Weakening and enlargement of the heart muscles (dilated cardiomyopathy) [7]
- Skeletal myopathy: Muscle weakness, particularly in the skeletal muscles [3][5]
- Intellectual disability: Cognitive impairment and intellectual challenges [2][5]
- Eye disease: Retinal degeneration and vision problems [4]
- Lung and liver involvement: Respiratory and hepatic issues [4]
In addition to these classic symptoms, individuals with Danon disease may also experience:
- Heart-related signs and symptoms, such as a sensation of fluttering or pounding in the chest [8]
- Stomach issues and breathing problems[6]
- Diminished motor skills and ongoing respiratory difficulties[6]
It's essential to note that Danon disease can affect individuals differently, and not everyone will experience all of these symptoms. If you or someone you know is suspected of having Danon disease, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.
References: [1] Not applicable (no relevant information found) [2] Feb 9, 2023 [3] by RS D’souza · 2014 · Cited by 202 [4] Not applicable (no relevant information found) [5] Danon disease presents classically with the clinical triad of cardiomyopathy, skeletal myopathy, and intellectual disability in boys. Other less prevalent ... [6] Symptoms · Diminished motor skills. · Impaired heart muscle, or cardiomyopathy. · Ongoing stomach issues. · Persistent breathing problems. · Intellectual challenges ... [7] What are the signs and symptoms? The main symptoms for Danon Disease include: Weakening and enlargement of the heart muscles (dilated cardiomyopathy) ... [8] Apr 18, 2024 — Individuals with Danon disease can have other heart-related signs and symptoms, including a sensation of fluttering or pounding in the chest ...
Additional Symptoms
- Cardiomyopathy
- Intellectual disability
- Skeletal myopathy
- Eye disease
- Lung and liver involvement
- Heart-related signs and symptoms
- Stomach issues
- Diminished motor skills
- breathing problems
Diagnostic Tests
Danon disease, also known as LAMP2-related cardiomyopathy, is a rare genetic disorder that affects the heart and skeletal muscles. Diagnostic tests for Danon disease are crucial in confirming the diagnosis and ruling out other conditions.
Blood Tests
- Elevated levels of creatine kinase (CK) in the blood can be indicative of Danon disease, especially in individuals with one Y chromosome [8].
- Normal acid maltase levels on muscle biopsy or blood-spot analysis can help rule out Danon disease [2].
Muscle Biopsy
- A skeletal muscle biopsy is a diagnostic test that involves removing cells from the muscle tissue to examine for characteristic changes, including an absence of LAMP2 protein [3].
- Histological and/or electron microscopy examination of the muscle biopsy sample can also be performed to confirm the diagnosis.
Genetic Testing
- Genetic testing of the LAMP2 gene is the most common diagnostic test for Danon disease [5].
- Molecular genetic testing for identification of loss-of-function variants in LAMP2 is the main diagnostic method for Danon disease [6, 7].
Other Tests
- Liver function tests may display elevated levels of aspartate transaminase, alanine aminotransferase, and lactate dehydrogenase, which can be indicative of Danon disease [4].
- Imaging studies such as MRI or CT scans may also be performed to evaluate the extent of cardiac involvement.
It is essential to note that a combination of these diagnostic tests may be necessary to confirm the diagnosis of Danon disease. A healthcare professional should consult with a geneticist, cardiologist, and other specialists to determine the best course of action for each individual case.
Additional Diagnostic Tests
- Blood Tests
- Other Tests
- Genetic Testing
- Muscle Biopsy
Treatment
Current Status of Drug Treatment for Danon Disease
Danon disease, a rare genetic disorder, currently lacks FDA-approved treatments to reverse its effects. However, researchers and pharmaceutical companies are actively exploring potential therapeutic options.
- Experimental Treatments: Several experimental treatments, such as gene therapies (e.g., RP-A501), are being investigated in clinical trials for the treatment of Danon disease. These studies aim to assess their safety and efficacy in managing symptoms and potentially reversing the effects of the disease.
- Rare Pediatric Disease Designation: Papillon Therapeutics' PPL-002, an experimental treatment for Danon disease, has been granted Rare Pediatric Disease designation by the FDA. This designation is given to treatments that target a rare pediatric disease with significant unmet medical need.
- Investigational Gene Therapy: Rocket's investigational gene therapy product, RP-A501, is being studied in a Phase 2 pivotal clinical trial for the treatment of Dan
Recommended Medications
- Experimental Treatments
- Papillon Therapeutics' PPL-002
- Rocket's RP-A501
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnosis in Danon Disease
Danon disease, also known as LAMP2-related cardiomyopathy, is a rare X-linked dominant genetic disorder that affects the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. When diagnosing Danon disease, it's essential to consider differential diagnoses, which are conditions that may present similar symptoms.
Conditions to Consider
According to various medical sources [1-5], the following conditions should be considered in the differential diagnosis of Danon disease:
- Pompe disease: a genetic disorder caused by the deficiency of acid alpha-glucosidase (GAA), leading to glycogen accumulation in muscles and organs.
- Cardiomyopathy: a group of diseases that affect the heart muscle, leading to impaired heart function.
- Skeletal myopathy: a condition affecting the skeletal muscles, which can be associated with Danon disease.
- Intellectual disability: cognitive difficulties or intellectual disabilities can also be part of the differential diagnosis.
Key Features to Consider
When evaluating patients for Danon disease, it's crucial to consider the following key features [4-6]:
- X-linked dominant inheritance pattern
- Hypertrophic cardiomyopathy in young male patients
- Muscle weakness
- Cognitive difficulties
These features can help guide clinical suspicion towards the diagnosis of Danon disease.
References
[1] Context 1: Differential diagnosis. Danon disease is part of the differential diagnosis in conditions exhibiting early-onset cardiac hypertrophy. [2] Context 5: Danon disease is a rare X-linked dominant genetic disorder that manifests with the clinical triad of cardiomyopathy, skeletal myopathy, and intellectual disability. [3] Context 4: Danon disease is caused by a change (mutation or variant) in a gene called LAMP2. [4] Context 14: The differential diagnoses for Danon disease are presented in Table 1. [5] Context 9: Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability.
Additional Differential Diagnoses
Additional Information
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