A short update, and new issue- Hypoventilation in Neurologic diseases

By the way, since it has been a while since I have done anything here, this is a short update. . .

Overall, my strength is still a problem. I can do 3 push-ups, barely. One further issue with the push-ups is that my right wrist is not up to the challenge even if my shoulders were. That wrist has been a weak point all along, and seems worse now.

My legs tend to go through weak times as mentioned earlier. Currently, they are not too bad, and I can walk further and faster now than at other times recently.

Hypoventilation in Neurological diseases

One issue that seems to be a rare thing for HNA, but can occur, is an issue with breathing. In general, this is only a problem at night when I sleep, or at least try to. Since the last updates, I have had a pretty severe problem getting good sleep. I had an initial O2 saturation study done as I slept, which determined that I had several periods of desaturation during the night. A very expensive full sleep study followed, which was inconclusive, except for a suggestion that my periods of REM sleep were shorter and less frequent than normal. I think I had trained myself to avoid REM sleep because I sensed I could not breath as well during it. I think the doctors were looking for standard obstructive sleep apnea, and my case did not suggest that, so they stopped looking into it. My sleep returned to normal right after the study. Go figure. It is like research into electrical problems in cars. They are a problem for you because you drive your car all the time. When you are at a mechanic to get it fixed, the problem can't be reproduced for them to diagnose the cause, or to fix it.  

See this link for more on breathing issues and neuromuscular diseases

http://emedicine.medscape.com/article/304381-overview

“Neuromuscular disorders

Neuromuscular diseases that can cause alveolar hypoventilation include myasthenia gravis, amyotrophic lateral sclerosis, Guillain-Barré syndrome, and muscular dystrophy. Patients with neuromuscular disorders have rapid, shallow breathing secondary to severe muscle weakness or abnormal motor neuron function.

The central respiratory drive is maintained in patients with neuromuscular disorders. Thus, hypoventilation is secondary to respiratory muscle weakness. Patients with neuromuscular disorders have nocturnal desaturations that are most prevalent in the REM stage of sleep. The degree of nocturnal desaturation is correlated with the degree of diaphragm dysfunction. The nocturnal desaturations may precede the onset of daytime hypoventilation and gas exchange abnormalities.”

Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type

Since I had been curious about a link between HNA and CMT Disease, here is one other site that discusses what that link entails. This article is over multiple pages on the site, and is a bit too technical for me to understand fully. But, this and other things I have discovered do suggest that HNA is at least related to CMT disease. It may not matter in the long run to most of us, but things like this are of interest to me, as a curiosity at least.

http://emedicine.medscape.com/article/1173484-overview

“In some hereditary neuropathies discussed below, focal asymmetric features (eg, hereditary neuropathy with liability to pressure palsy [HNPP]) predominate; in others (eg, certain cases of Charcot-Marie-Tooth disease type 1A (CMT1A) and inherited brachial plexus neuropathy [IBPN]/hereditary neuralgic amyotrophy [HNA]), proximal weakness predominates. Typically, a predilection exists for distal limbs as the site of disease onset and more severe symptoms and signs. Furthermore, while significant variation in nerve conduction velocities exists between and within families, this parameter does not predict severity, with the exception of the very low (ie, < 5 m/s) velocities observed in Dejerine-Sottas syndrome (DSS) and congenital hypomyelination neuropathy (CHN).”

Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type (Includes HNA)

Maybe I gave up on CMT too easily earlier in the process. I had seen earlier that there was a subset of CMT refered to as “Hereditary neuropathy with predisposition to pressure palsy”, but I do not remember seeing that they went on to describe HNA as a subset of that. Maybe it is possible to have both HNA and CMT because it appears here at least that the two are related as described.

Form this website:

Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type

http://emedicine.medscape.com/article/1173484-overview#aw2aab6b3


“Neuritis with brachial predilection/hereditary neuralgic amyotrophy/hereditary brachial plexus neuropathy
Dreschfeld in 1886 may have been the first to recognize this condition when he described a woman with 3 episodes of painful arm weakness, whose sister had experienced 7 such attacks. Jacob et al in 1961 described in 7 patients of 2 unrelated families 14 similar episodes of recurrent brachial neuritis with incapacitating pain, weakness, wasting, depression of reflexes, and sensory loss. The legs were involved, and arm involvement was severe.[20] In 1973, Guillozet and Mercer described a similar condition in 3 generations of a family.[21] At times, the lower cranial nerves and sympathetic nervous system are involved as well.

HNA is an autosomal dominant form of recurrent focal neuropathy. Individuals experience episodic brachial plexus neuropathy with weakness, atrophy, and sensory disturbances, preceded almost always by severe pain in the affected arm. Age of onset is in the second and third decades of life and rarely in the first. Recovery is usually complete and begins weeks to months after the onset of symptoms. Recurrent episodes may affect either arm. The right arm is involved more often.”

Charcot-Marie-Tooth_disease -And early onset Glaucoma

http://en.wikipedia.org/wiki/Charcot-Marie-Tooth_disease

I am making a quick post for this. Some symptoms are similar to HNA/NA, others not. But, there is one "phenotype" of CMT I see that does cause early onset glaucoma. One thing though- the weakness pattern is similar to HNA, but I have not seen any entry for CMT that talks about winging scapulas, of anterior interosseous nerve problems I have had. My guess about glaucoma and HNA, if it is related to HNA at all, no one has taken the time to check into it yet.