Rare Neurological Disorders: Seeking Answers for My Mother's Symptoms - Rare Disease

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My mother has been troubled by frequent hand cramps for nearly ten years.
She has been regularly seeing a neurologist in Taichung, but there seems to be no improvement.
The neurologist in Taichung diagnosed her with "epilepsy," but isn't epilepsy characterized by severe symptoms like convulsions and loss of consciousness? My mother does not experience such severe episodes; her cramps occur unexpectedly, usually during sleep, leading to frequent sleep deprivation.
Recently, she has experienced a few instances of losing consciousness for several minutes due to uncontrollable cramps.
She describes a sensation that feels like something is rushing from her right hand to her brain.
We have consulted numerous specialists and hope you can help clarify this situation.
Thank you!

Yu Ma, 20~29 year old female. Ask Date: 2007/09/06

Dr. Lai Xiangrong reply Rare Disease


Based on the description in the letter, the frequent muscle cramps in the hands, along with the symptoms of uncontrollable cramps leading to a few minutes of unconsciousness, could potentially indicate epilepsy.
Epilepsy is characterized by abnormal electrical discharges in the brain, which can manifest in various ways depending on the affected areas.
One of the manifestations includes convulsions with frothing at the mouth while on the ground.
There are many other possible presentations as well.
Consulting a neurologist is the appropriate choice, and it is important to have a thorough discussion with the attending physician rather than seeking opinions from numerous doctors.

Reply Date: 2007/09/06

More Info


Your mother's symptoms and the challenges she faces with her neurological condition are understandably concerning. It seems that she has been experiencing muscle spasms in her right hand for many years, which have recently escalated to episodes of loss of consciousness. This situation warrants a thorough understanding of her condition and the potential underlying causes.

Firstly, it's important to clarify that not all forms of epilepsy manifest with the classic symptoms of convulsions or loss of consciousness. There are various types of epilepsy, and some can present with focal seizures, which may involve muscle spasms or twitching in a specific part of the body, such as the hand. These focal seizures can sometimes be subtle and may not lead to the dramatic symptoms often associated with generalized seizures. The fact that your mother experiences these spasms primarily during sleep and has had episodes of confusion or loss of consciousness suggests that her condition may indeed be related to a seizure disorder.

The sensation she describes, where she feels a "wave" moving from her right hand to her brain, could be indicative of a focal seizure that starts in the motor cortex of the brain, which controls movement. This type of seizure can sometimes lead to secondary generalization, where the seizure spreads to involve both hemispheres of the brain, resulting in a loss of consciousness.

Given that your mother has been under the care of a neurologist for a long time without significant improvement, it may be beneficial to seek a second opinion or to consult a specialist in epilepsy. An epilepsy specialist can conduct a comprehensive evaluation, which may include advanced imaging studies such as an MRI or a video EEG monitoring to capture her symptoms in real-time. This could help in accurately diagnosing the type of seizures she is experiencing and determining the most effective treatment plan.

In addition to medication, lifestyle modifications can also play a crucial role in managing seizure disorders. Ensuring that your mother gets adequate sleep, managing stress, and avoiding known triggers (such as certain foods, alcohol, or lack of sleep) can help reduce the frequency of her episodes.
Moreover, if her symptoms are indeed related to epilepsy, there are various treatment options available, including antiepileptic medications that can help control seizures. If medications are not effective, other treatments such as dietary therapies (like the ketogenic diet), vagus nerve stimulation, or even surgical options may be considered.

It's also essential to address her overall health and well-being. The episodes of loss of consciousness and sleep disturbances can lead to anxiety and depression, which can further complicate her condition. A multidisciplinary approach involving neurologists, psychologists, and possibly physical therapists may provide a more holistic treatment plan.

In summary, your mother's symptoms are complex and warrant a thorough evaluation by a specialist in epilepsy. It is crucial to ensure that she receives the appropriate diagnostic tests and treatment options tailored to her specific condition. With the right care and management strategies, there is hope for improvement in her quality of life. Please continue to advocate for her health and seek the necessary medical support to address these challenges.

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