Motor deterioration

[Recynd]

Forgive the length of this post, but I’m desperate and scared, and I want to be as accurate as possible.

My husband, J., is a 45 y.o. professor who has always enjoyed fairly good health, along with physical strength and stamina. Although he’s always suffered from physical idiosyncrasies…for example, he's always been very sensitive to bright light (he's always worn sunglasses outside), never been particularly graceful (we've always joked about his lack of "surefootedness"), he has always suffered from severe insomnia, but the most troublesome “quirk” has been what we've called "a fine motor skill problem". Even as young as six or seven, writing (the physical act) has been particularly difficult, if not downright impossible. J. clutches his pencil extraordinarily tightly, and complains of the lead “slipping” away from the paper...but until recently, anyway, he's been able to compensate for each of these challenges.

Around March, 2006, J. complained of his neck feeling "funny”, like his muscles felt like rubber bands. He said it felt like he couldn't hold his head up (or, if he could, that it might flop over at any time). Around this time, I noticed that his face was "pinchy": he was pursing his lips a little and kind of scowling or grimacing. Kind of an "irritated" look. J.'s voice (which was pitch-perfect at one time) had started cracking (like a kid going through puberty) occasionally. I also started noticing that J. was different somehow. Shorter-tempered, more quick to anger, broodier, prone to over-react. It was pretty subtle at first, and I thought for sure it was due to anxiety. I asked my psychiatrist to evaluate him, and she recommended a visit to a neurologist, and soon. He also started tripping over small cracks in the sidewalk, edges of carpeting, etc., and losing his balance easily.

J. got a referral to a neurologist from his GP, and after a cursory exam, that doctor recommended a movement disorder specialist in our area.

Fast forward to about September 2006; though J.'s "floppy neck" had gone back to normal, his pinching (that's just our word for it) seemed to be getting worse. J. saw Dr. T. (the movement disorder specialist), who immediately ordered a host of tests which ruled out Wilson's Disease, a brain tumor, or brain abnormality. J.'s EMG was fairly unremarkable, though did show evidence of carpal tunnel syndrome, which Dr. T. felt was somehow related to J.'s dystonia. Dr. T. ultimately diagnosed J. with Meige Syndrome, along with blepharospasm, and the likelihood of spasmodic dysphonia developing in the near future. Though Dr. T. later denied knowing about it, I'm sure we mentioned J.'s fine motor skill problems and increasing clumsiness; in any case, those symptoms, as well as the reported muscle fasciculations and muscle spasms were ignored by the doctor.

Dr. T. started J. on Klonopin, and slowly titrated the dose upward. He also began BoTox treatments, which J. has endured, with varying results...and side effects.

The turning point occurred around this past Christmas, and J.’s been rapidly declining. His current symptoms (which are worsening daily) include the following: overwhelming fatigue (spends many days in bed); non-restorative sleep; increased snoring/apnea; continued personality changes (which he denies) and include chronic irritability, increasing negativity, hostility, suspiciousness, social withdrawal [don’t blame him there], overreacting to minor events, and impulsivity (after 17 years of marriage, I feel like I’m living with a stranger); decreased cognitive functioning (one of the most frustrating for me is his inability to “see the forest for the trees”); an inability to "find" words; ataxia/poor dexterity; increased clumsiness; poor "grip control"; muscle fasciculation in his arms and legs; hearing decline; cracking voice and increased hoarseness; lack of breath control (especially when speaking); breathlessness with minimal activity; muscle weakness, excessive confusion upon wakening; drooping eyes (and they sometimes kind of wander, which is new); muscle cramping; muscle "jerks" in shoulders; a tendency to “over-shoot” (e.g., when pointing); slurred/thick speech/enunciation, urinary retention; etc.

We’ve managed to secure an appointment with the HD clinic at UCLA’s neurology department, but not for another month. The other real concern is ALS, but one doesn’t normally see personality/cognitive changes with ALS.

The uncertainty is the worst part; I have a terrible suspicion that I’m going to lose this man I love. I’m going to be 40 in a month, and I’m afraid (God forbid) that I’m going to be a widow, and my son will have to grow up without a father; but if that’s the case, I’VE GOT TO START PLANNING, BEFORE IT’S TOO LATE. Please, can you help me at all? I know you can’t offer a diagnosis, but you can’t imagine the state I’m in.

Thank you for you patience with me; if you’ve read this entire post, you qualify for sainthood in my book (for what THAT’S worth).

Recynd

[MG (Admin)]

Thanks for the question.

Please let me know the following:-

1) What the neruologist wrote about his current situation on examination
2) What possible diagnoses have been put forward
3) Whether there is any family history
4)What ethnic group he is from
5) Other medical problems and a list of all meds he has taken or is taking
6) Brain MRI results
7) Has he had a lumbar puncture? EEG? Neuropsychological assessment?
8 ) Have any genetic tests been performed?
9) What blood tests have been done?

Thanks

[Recynd]

Hi! I just wanted to touch base to let you know how much I appreciate your quick response. I have tried twice now to answer your post, but (apparently) took too long and the site automatically logged me off before I could send them. Migraine-inducing frustration, let me tell you!

Anyway, I will make a third attempt shortly (using Word this time, and cutting and pasting onto the site's reply box); in the meantime, I wanted you to know how grateful I am to you.

Recynd

[Dr_prakesh]

No problem...hope to hear from you soon.