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Exploring Top 3 Rare Neurological Disorders

dr shukla neurologist tx
Medically reviewed by Dr. Shukla
dr shukla neurologist tx
Medically reviewed by Dr. Shukla

Rare neurological diseases are a group of syndromes and diseases with a low prevalence in the population. The common features are decreased motor activity and muscle weakness.

Often, rare neurological disorders are due to genetic causes:

  • inherited from parents to children;
  • arise due to a new gene mutation (spinal muscular atrophy, myotonia, paroxysmal myoplegia). 

There is also a heterogeneous group of neuromuscular syndromes and diseases caused by auto aggression of the immune system, the production of antibodies that damage and destroy healthy cells and tissues of the body. It can be Guillain-Barré syndrome, myasthenia gravis, or multifocal motor neuropathy.

The causes of some rare diseases of the nervous and muscular systems are not fully understood. Some of them are unknown (amyotrophic lateral sclerosis, multifocal motor neuropathy).

No drugs affect the causes of most rare neurological conditions. However, using symptomatic and supportive therapy helps improve a patient’s quality of life. It reduces mobility limitations and muscle weakness and thus improves prognosis. In this article, we will discuss the rarest of these diseases.

List of Rare Neurological Disorders

The realm of neurological disorders encompasses a vast array of conditions, some of which are exceptionally rare. These disorders often present unique challenges in diagnosis and treatment due to their:

  • infrequency;
  • limited understanding. 

One such rare disorder is Alternating Hemiplegia of Childhood (AHC). This is a neurological condition characterized by recurrent episodes of paralysis. They affect one side of the body.

Another rare disorder is Stiff Person Syndrome (SPS), where individuals experience:

  • stiffness;
  • muscle spasms;
  • heightened sensitivity to stimuli. 

Its rarity makes it challenging to diagnose and treat effectively. Wilson’s Disease is a rare neurological condition leading to copper accumulation in the body. It impacts the liver and nervous system.

Paraneoplastic Pemphigus is a neurological disorder associated with certain cancers. It results in severe blistering of the skin and mucous membranes.

Understanding and researching rare neurological diseases is crucial for:

  • those affected;
  • advancing medical knowledge. 

Collaboration between researchers, clinicians, and advocacy groups becomes paramount. We need it to unravel the mysteries of these conditions. So, finding a way to improve diagnostics and treatments becomes possible. And it ultimately leads to better lives for those facing the challenges of a list of rare neurological disorders.

Alternating Hemiplegia of Childhood (AHC)

It is a rare neurological disorder of early childhood characterized by:

  • episodic attacks of hemi;
  • quadriplegia lasting from a few minutes to several days. 

This usually goes with ocular dyskinesia, dystonic attitudes, and choreoathetoid movements. And it leads to progressive cognitive impairment. Symptoms of this disorder usually appear before 18 months of age. The incidence of alternating hemiplegia syndrome in the population is currently undetermined. Some reports suggest a prevalence of 1 in 1,000,000. Specifically, it is 75%.

Causes

The exact causes of this rare neurological condition remain elusive. Evidence suggests genetic mutations. However, the precise mechanisms triggering the disorder are not fully understood. Research is ongoing to unravel the complex genetic and environmental factors contributing to the onset of AHC.

Symptoms

Symptoms include recurrent episodes of paralysis affecting one side of the body. Other neurological and developmental challenges often accompany them. The intermittent nature of these symptoms makes diagnosis even more difficult. This requires a comprehensive understanding of the diverse manifestations of the disease.

Treatment

Managing the disease involves a multidisciplinary approach. While there’s no cure, treatments aim to alleviate symptoms and improve quality of life. Medications, physical therapy, and supportive care play integral roles. Due to the rarity, individualized treatment and research are critical for therapeutic strategies.

the doctor looks at the MRI images of the brain

Stiff Person Syndrome (SPS)

Stiff Person Syndrome is an exceptionally rare neurological disorder characterized by:

  • muscle stiffness and spasms;
  • very increased sensitivity to external irritants. 

Symptoms of this rare neurological disorder are immobility, frozen stares, withdrawal, and refusal to eat. It is theorized to be a motor disorder, “will paralysis,” fear syndrome, or the result of the immune system going awry. Researchers are currently studying the brains of catatonic people. They try to understand what causes a person to freeze. Understanding its causes, symptoms, and treatments is crucial for people with this condition.

Causes

The precise causes of Stiff Person Syndrome remain unclear. But it is often associated with autoimmune dysfunction. Antibodies targeting the nervous system are thought to play a role. Research is ongoing to unravel the intricate immune system interactions. They contribute to the development of this rare neurological disorder.

Symptoms

The syndrome manifests with persistent muscle stiffness, spasms, and an exaggerated startle reflex. These symptoms can severely impact mobility and daily activities. Additionally, individuals with SPS may experience heightened emotional responses. It leads to the complexity of the disorder’s clinical presentation.

Treatment

Medications play an essential role in treating this rare neurological condition, especially those:

  • targeting muscle tone;
  • physical therapy;
  • management of associated anxiety. 

Due to the rarity of SPS, personalized treatment plans are crucial. They emphasize the need for ongoing research to refine therapeutic strategies. Also, they can enhance the quality of life for those living with this challenging condition.

Paraneoplastic Pemphigus

Paraneoplastic Pemphigus is not less important in our list of rare neurological disorders. It is associated with certain cancers, characterized by:

  • severe skin blistering;
  • mucous membranes. 

We need to clarify its causes, symptoms, and effective treatments. So we will be able to manage the underlying cancer and the autoimmune response.

Causes

An immune response to cancerous tumors triggers Paraneoplastic Pemphigus. Antibodies produced against cancer cells mistakenly attack the skin and mucous membranes. And this action leads to blistering. Elucidating the specific mechanisms linking cancer and autoimmunity is the focus of researchers.

Symptoms

Symptoms of this rare neurological condition include:

  • painful blisters;
  • erosions on the skin;
  • mucous membrane involvement affects the mouth, throat, and other areas. 

Respiratory complications may arise. Recognizing these symptoms is crucial for early diagnosis and prompt intervention.

Treatment

Managing Paraneoplastic Pemphigus involves addressing both the autoimmune response and the underlying cancer. Immunosuppressive medications, corticosteroids, and treatments targeting the cancer are essential components. A multidisciplinary approach involving dermatologists, oncologists, and immunologists is key.  So, scientists can develop effective, personalized treatment plans for individuals with this disorder.

Conclusion

Neurologists at our clinic comprehensively evaluate neuromuscular diseases, including rare neurological disorders and syndromes. Our physicians are highly qualified specialists with extensive practical experience. They have skills to diagnose and treat rare, neurological, demyelinating, and autoimmune diseases.

Lone Star Neurology Clinic is equipped with state-of-the-art diagnostic and therapeutic equipment. It helps to diagnose rare diseases and utilize effective treatment tactics accurately. We use only proven therapeutic approaches and treat according to international protocols. Our professionals prescribe effective symptomatic and supportive therapy. So you can contact us in case of any health issues without hesitation!

FAQ

How are rare neurological diseases diagnosed? 

They are typically diagnosed through a combination of medical history, physical examinations, laboratory tests, imaging studies, and sometimes, genetic testing.

Why is awareness about rare neurological disorders important? 

Awareness is crucial to drive research, funding, and support for affected individuals, leading to improved understanding and potential treatment options.

Can lifestyle changes prevent rare neurological conditions? 

While some conditions have modifiable risk factors, many rare neurological conditions are primarily caused by genetic mutations or are idiopathic, meaning the cause is unknown.

Are there treatments available for these rare neurological disorders?

Yes,  but they often require a multidisciplinary approach. Medications, therapies, and, in some cases, surgical interventions aim to manage symptoms. Individualized care, often involving neurologists, immunologists, and oncologists, is crucial for developing effective treatment plans tailored to each patient’s unique needs.

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Edward Medina
Edward Medina
15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
Daneisha Johnson
Daneisha Johnson
22:20 19 May 22
Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been prepared.read more
Jean Cooper
Jean Cooper
16:54 29 Apr 22
I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well together.read more
Linda M
Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your business.read more
Ron Buckholz
Ron Buckholz
23:32 23 Mar 22
I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
Steve Nabavi
Steve Nabavi
16:28 16 Mar 22
It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any cookies.read more
Katie Lewis
Katie Lewis
16:10 10 Feb 22
Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
Joshua Martinez
Joshua Martinez
16:02 10 Dec 21
I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going there.read more
Isabel Ivy
Isabel Ivy
21:42 03 Nov 21
I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my treatment.read more
Leslie Luce
Leslie Luce
17:37 20 Oct 21
The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to finish.read more
robert Parker
robert Parker
16:38 16 Apr 21
I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 stars.read more
MaryAnn Hornbaker
MaryAnn Hornbaker
00:26 25 Feb 21
Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his staff.read more
Roger Arguello
Roger Arguello
03:05 29 Jan 21
Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best treatment.read more
Margaret Rowland
Margaret Rowland
01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my doctor.read more
Susan Miller
Susan Miller
03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
Windalyn C
Windalyn C
01:32 09 Jan 21
Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
Katie Kordel
Katie Kordel
00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding solutions.read more
Ellie Natsis
Ellie Natsis
15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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