Genetics, informing use of Diamox:
In this article on central nervous system channelopathies, the below figure and table lists the genetic mutations along with the corresponding body systems and medications that treat them. Several people in the hypnic jerking group have received epilepsy genetic panel screens (you do not need to be having “seizures” to have an epilepsy genetic panel run). The identified mutations of group members indicate that Diamox could be an appropriate therapeutic intervention. This medication has been helping us so far.
Dr. Diana Driscoll hypothesizes that patients prone to poor CSF absorption, likely from birth (through abnormal arachnoid villi and also perhaps through compromised lymphatic and venous drainage) resulting in a “low-level” of high pressure over many years, may be prone to further damage to the outflow system later in life.
Further, she reports that little or no attention has been given to patients whose presentation represents a low level of increased CSF pressure (falling under the External Communicating Hydrocephalus category), yet continues beyond childhood and may worsen with the effects of infection and age. Hydrocephalus can also occur under circumstances with normal tested pressure where ventricles enlarge and surges in pressure occur usually at night time.
When damage to the CSF outflow system is triggered, it acts as the “last straw” in an already compromised CSF drainage system. The resulting signs and symptoms at this “tipping point” include autonomic dysfunction, endocrine abnormalities, mast cell abnormalities, chronic fatigue, cranial nerve symptoms and a constellation of neurological symptoms.
Dr. Driscoll believes that the inflammatory component triggering these symptoms (possibly viral) instigates the chemicals released by mast cells: cytokines, histamine, chemokines, prostaglandins, heparin, neutral proteases and acid hydrolases.
This can cause the hypothalamus and thalamus to shut down the cortisol and ACTH production at night time. The thalamus controls wakefulness, sleep regulation, arousal and all senses, excepting the olfactory sense. In her book, recommendations include a tailored approach to using Diamox, H1/H2 blockers and cromolyn sodium (as indicated).
There are several hypnic jerking patients who have had success with the use of the prescription medication Diamox/Acetazolamide. There is some literature and research that likely relates to its success with our patient group. Below I will outline information from two sources that attribute success to diamox for seemingly different reasons: 1. Research on channelopathies (if indeed, hypnic jerking is linked to a genetic channelopathy) and 2. The Driscoll Theory, attributing a transient “low level” of high pressure elevation of cerebrospinal fluid (CSF) in the brain. For all we know, the issue of hypnic jerking can be a combination of the two (or more) issues.
We can gain further clarity on channelopathy involvement if more people receive comparative genetic testing. We can gain further clarity on CSF flow disturbance by examining the CSF flow MRI’s that are taking place in select areas of the US (see our CSF flow research project). It is possible that spinal issues (C1/C2 subluxation / dislocation) can contribute or cause the “low level” of high pressure that Dr. Driscoll describes, underscoring the importance of precise approaches such as Atlas Orthogonal.
Genetic channelopathies. In this article on central nervous system channelopathies, the below figure and table lists the genetic mutations along with the corresponding body systems and medications that treat them. The identified epilepsy panel mutations of group members indicate that Diamox could be an appropriate therapeutic intervention. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4861771/
The Driscoll Theory (The Driscoll Theory book, Part 1, 2011) Dr. Diana Driscoll hypothesizes that patients prone to poor CSF absorption, likely from birth (through abnormal arachnoid villi and also perhaps through compromised lymphatic and venous drainage) resulting in a “low-level” of high pressure over many years, may be prone to further damage to the outflow system later in life. Further, she reports that little or no attention has been given to patients whose presentation represents a low level of increased CSF pressure (falling under the External Communicating Hydrocephalus category), yet continues beyond childhood and may worsen with the effects of infection and age. Hydrocephalus can also occur under circumstances with normal tested pressure where ventricles enlarge and surges in pressure occur usually at night time. When damage to the CSF outflow system is triggered, it acts as the “last straw” in an already compromised CSF drainage system. The resulting signs and symptoms at this “tipping point” include autonomic dysfunction, endocrine abnormalities, mast cell abnormalities, chronic fatigue, cranial nerve symptoms and a constellation of neurological symptoms. Dr. Driscoll believes that the inflammatory component triggering these symptoms (possibly viral) instigates the chemicals released by mast cells: cytokines, histamine, chemokines, prostaglandins, heparin, neutral proteases and acid hydrolases. This can cause the hypothalamus and thalamus to shut down the cortisol and ACTH production at night time. The thalamus controls wakefulness, sleep regulation, arousal and all senses, excepting the olfactory sense. In her book, recommendations include a tailored approach to using Diamox, H1/H2 blockers and cromolyn sodium (as indicated).