Fame disease, more accurately known as Familial Adult Myoclonic Epilepsy (FAME), is a genetic neurological condition.
Understanding Familial Adult Myoclonic Epilepsy (FAME)
FAME is a hereditary disorder characterized by specific neurological symptoms. It’s important to note that the term "fame disease" is a misnomer; the correct term is Familial Adult Myoclonic Epilepsy.
Key Characteristics of FAME
| Feature | Description |
|---|---|
| Inheritance | Autosomal dominant, meaning a single copy of the affected gene is sufficient to cause the disorder and there's a 50% chance of passing it down to offspring. |
| Primary Symptoms | Cortical hand tremors and myoclonic jerks (sudden, involuntary muscle twitching). |
| Secondary Symptoms | Occasional or rare convulsive seizures may also occur. |
| Onset | Usually starts in adulthood, hence the 'adult' designation. |
| Penetrance | High-penetrant, meaning those who inherit the gene often show the condition. |
| Other Acronyms | Also described by other names such as ADCME, BAFME, FEME, FCTE and others. |
How FAME Manifests
- Tremors: These are typically experienced in the hands and are often the first noticeable symptom.
- Myoclonus: These are sudden, involuntary muscle jerks that can affect various parts of the body but are common in the hands.
- Seizures: While less frequent, convulsive seizures can occur as part of the symptom set of the condition.
Genetic Basis
The condition stems from a change in one of the genes that regulate nerve and muscle function, making it a genetically passed-down disorder. Because it is autosomal dominant, only one parent needs to carry the mutated gene in order for offspring to potentially inherit the condition.
Diagnosis and Management
- Diagnosis is typically based on clinical examination, family history and genetic testing.
- Currently, there is no cure for FAME, but there are treatments, such as medication, that help manage the symptoms.
Conclusion
In summary, fame disease is not the accurate name of the neurological disorder. The correct term is Familial Adult Myoclonic Epilepsy (FAME). FAME is a genetic condition featuring cortical hand tremors, myoclonic jerks, and occasionally seizures. It’s important to consult medical professionals for correct diagnosis and management of the disorder.
