Discussions By Condition: I cannot get a diagnosis.

Undiagnosed Muscular Disorder?

Posted In: I cannot get a diagnosis. 25 Replies
  • Posted By: Waller
  • February 2, 2009
  • 07:19 PM

Background:
-full termed, natural birth, face down unsuccessful attempt at rotation, failed amnio
-milestones not attained, floppy with head tilt to the right at 6-7 mos.
-orig. wrong diagnosis Wernig-Hoffman age 8 mos
-also ruled out Duchenne's MD
-elevated CPK
-FTT
-muscle biopsy at age 10 months and 5 years old unable to determine underlying cause or disease
-muscle weakness upper extremeties
-genetics panel unable to determine origin
-non-progressive myopathy

I'm currently 21 years of age and still undiagnosed. The muscle weakness has also led to extreme lordosis, which is now impacting my ability to breathe properly. The possible corrective surgery is extremely risky due my weak upper body and chronic lung disease.

Any direction as to what testing I can pursue would be greatly appreciated.

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25 Replies:

  • Please describe your chronic lung disease more. Do you have any pain? Are you currently on any medication?
    Felsen 510 Replies
    • February 3, 2009
    • 07:42 PM
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  • Please describe your chronic lung disease more. Do you have any pain? Are you currently on any medication?I had developed an undiagnosed pneumonia at age 10. It was only noticed when I became cyanotic. At the hospital, I was intubated and then released with a bipap machine to use mostly at night or when tired. Since then, my lungs have been weak. Over the last 3 years or so, the lordosis has constricted them further, to the point that I'm on the bipap all the time now. I have no pain in my lungs. The only pain I have is discomfort from the lordosis. I am on no medications, except daily aspirin for a minor case of atrial fibrillation.
    Waller 7 Replies
    • February 3, 2009
    • 07:54 PM
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  • There is an excellant neurologist here, dr Cottle. I hope he sees your post. Good luck! :)
    Felsen 510 Replies
    • February 4, 2009
    • 10:05 PM
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  • There is an excellant neurologist here, dr Cottle. I hope he sees your post. Good luck! :)Thank you. :)
    Waller 7 Replies
    • February 4, 2009
    • 10:17 PM
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  • Anyone? Thank you. :)
    Felsen 510 Replies
    • February 5, 2009
    • 06:11 PM
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  • Okay, I've reviewed the posting and the history of your conditon. Based upon the description, I would be concerned that a sydrome known as Nemaline Rod Myopathy may have been overlooked. NM is a somewhat rare congenital myopathy with rod-like structures which are embedded in the muscle fibers and cause the characteristic features of the disorder. The myopathy can be either progressive or nonprogressive, typically is associated with cardiopulmonary involvement and often misdiagnosed as SMA (Wernig-Hoffman) or muscular distrophy. I think it would be worthwhile to undergo a muscle biopsy of the vastus lateralis of left quadriceps to determine under examination whether the presence of rods exist. I would also determine whether genetic testing is available to determine the presence of either an ACTA-1 mutation or 2q22. Many of the congenital cases cases demonstrate early mortality but variation in presentation produces concomitant effects that produce less lethality. Several other congenital myopathies come to mind that could be a possibility, such as central core or central nuclear myopathy but I would first want to know whether a fresh biopsy demonstrates NM. Also, is there any hypertrophy of the calf muscles? Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • February 6, 2009
    • 02:08 AM
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  • No, my calf muscles aren't hypertrophic. Below are results of previous biopsies and tests:1 year: The paraffin-embedded specimen consists of skeletal muscle in transverse and longitudinal section the hematoxylin and eosin stained sections appear normal. Modified Gomori trichrome stains reveal very rare atrophic fibers. The myofibrillar ATPase shows no fiber type grouping or predominance. NADH-TR reactions demonstrates a normal pattern of sarcoplasmic staining. Numerous motor endplates are noted in sections stained with the nonspecific esterase method. Cytochrome c oxidase stain is normal. 4 years: EMG studies are normal.6 years: NADH-TR and ATPase reactions I fiber predominance is present. These findings may be seen in chronic myopathy but, in this case, may largely reflect the presence of the nearby myotendon. 10 years: Normal MRI of the brain. Reflexes absent throughout. Should I still go for another biopsy to check for NM?
    Waller 7 Replies
    • February 6, 2009
    • 05:44 PM
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  • How much are you able to use your calves? Are you in a wheel-chair?
    Felsen 510 Replies
    • February 7, 2009
    • 00:02 AM
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  • How much are you able to use your calves? Are you in a wheel-chair?I am in a wheelchair, yes, but I did walk until I was about 5. As I grew taller, I could no longer support/balance myself upright. My calves? Pretty well I guess, they were never significantly weaker than the rest of me or anything. Most of my weakness seems to be in my upper body really. I'm also perhaps slightly weaker on my right side, but I'm not sure.
    Waller 7 Replies
    • February 7, 2009
    • 00:09 AM
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  • Well, since we have an onset at birth or very shortly therafter, it would be somewhat unlikely that nemaline rods have been missed on biopsy, but then again, I've observed cases wherein the diagnosis becomes confusing because something was overlooked rather than representing an entirely novel presentation. One interesting note is that you mention the EMG studies to be entirely normal, which would argue against any of the congential myopathic diseases more traditionally encountered. The mention that the genetic studies were unremarkable also tends to push this farther from the arena of myopathic disease. Additionally, we have primarily upper torso and limb weakness, with relative sparing of the lower extremities that would be remarkable indeed if associated with myopathy. Your postings would suggest that you're also a rather articulate young man of better than average intelligence, so yet another group of potential underlying causes can be set aside that typically affect cognitive function and mental capacity in addition to muscular function and patency. This tends to increasingly sound more like a spinal column issue that is being affected by the musculature which supports it. There is a primary muscle at the column called the multifidus, which by comparison to its rather small diameter, is remarkably significant in its function to maintain uniform characteristics of the normal spinal column process. A problem at either this level of muscular development or proper function could indeed pose a significant impact upon various areas of physical development. My overall concern would be whether the risk of surgery is going to ultimately outweigh the diminishing lung function that will only lead to further complication and incidence of opportunistic infections etc. that at some point could pose an even greater challenge. While it would be important to ultimately identify the underlying cause of the disorder, the more imminent discussion should be centered upon how to surgically intervene while diminishing the risk due to existing conditions as much as possible. Lastly, it's important to also realize that some rather significant advancements in genetics have been made in the past decade or so and to re-visit that portal in search of the original underlying cause may, at some point, be beneficial. I would be interested in reviewing any additional actual test result data in your possession that you may care to post, but realize that in doing so you are forfeiting some of your patient rights regarding privacy. Although the forum is anonymous, it remains a factor nevertheless. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • February 7, 2009
    • 01:07 PM
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  • Did you mean kyphosis or lordosis?I've never heard of anyone having respiratory problems with lordosis.
    richard wayne2b 1232 Replies
    • February 7, 2009
    • 02:39 PM
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  • I know this unknown etiology is prevalent amongst males, so I should have stated that I am female, my apologies. Regarding the multifidus muscles, what specific action might I take to delve further into this possibly being the cause of my muscle condition? I know you recommended further genetic studies, I was wondering if a MRI or CTScan would be beneficial as well. The genetic testing that I received in late 2000 was for Spinal Muscular Atrophy (SMA). The findings: "This individual does not possess a deletion of either exons 7 or 8 in the survival motor neuron (SMN) gene and therefore this test fails to confirm the diagnosis of Spinal Muscular Atrophy (SMA). Unfortunately, we do not have another diagnosis to explain her symptoms."@richard wayne2b: It is lordosis/arched spine. The severity of it is causing the respiratory problems.
    Waller 7 Replies
    • February 7, 2009
    • 10:08 PM
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  • Waller, you have mentioned that your doctors have suggested a possible surgery of the spine. What kind of surgery have they suggested? I am not sure I understand why you have developed a lordosis. Is your lordosis becoming more and more severe?
    Felsen 510 Replies
    • February 7, 2009
    • 11:02 PM
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  • Waller, do you mean that you have a lordosis in the middle part of your spine, where there normally should be a kyphosis?
    Felsen 510 Replies
    • February 7, 2009
    • 11:13 PM
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  • My fault for the gender confusion. Richard_Wayne2b is a physician as well. His term for your condition is indeed correct. Lordosis would be curvature in the opposite direction from what we believe you intend for us to understand. Lordosis would be consistent with swayback, while kyphosis represents curvature of the spinal column forward and downward that would subsequently cause compression of the chest cavity, accessory musclulature and lung space. Aside from instances such as your particular condition, kyphosis is common in elderly patients. While lordosis would be possible, I simply wonder if you'd mind clarifying it for us. I don't believe that a CT or MRI at this point would be valuable, but I'm more convinced that this was more of a localized defect at birth that resulted in your present condition. I would also wonder if you can recall your physicians performing a more recent neurological exam wherein muscle strength and tone, as well as range of motion was recorded, together with the precise numerical values for reflexes throughout. This would help provide me with better imagery of what your condition represents. If your surgeons have discussed the possibility of inserting a Harrington rod to approximate your spinal column within practical tolerences, this should be the focus of your efforts at this point in time. Because of your young age and the fact that your lung condition will, in all practicality, only become more complicated with time, the need to consider intervention would be primary in my opinion. While certain additional precautions would be necessary, I really don't believe this would place you outside the arena for surgical intervention. With this in mind, a CT or MRI, even genetic testing, to determine the original cause, would definitely be secondary since the outcome would not change the need to correct your spinal deformity. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • February 7, 2009
    • 11:37 PM
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  • Sorry for the delayed response.I'm pretty sure it's lordosis, but here is a picture of the x-ray to be sure. http://img.photobucket.com/albums/v311/JustForBanana/xray.pngSorry for the poor quality, it's a side view with me facing the right, if that's unclear. Unfortunately, I don't have anything recent from a physician about the things you mentioned. The surgeons haven't mentioned the term Harrington Rod but I know they intend to use some sort of metal rods and wires. Aside from my lung condition, they are also concerned about me being underweight. Despite a regular diet, I'm only about 65lbs at 5 feet tall.
    Waller 7 Replies
    • February 9, 2009
    • 08:14 PM
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  • You were right, Waller. It is a lordosis. :)
    Felsen 510 Replies
    • February 10, 2009
    • 09:11 PM
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  • Indeed, the spinal inflection is lordodic. I stand corrected. It is also revealing that your condition is not due to myogenic pathology as well. This is a spinal column syndrome of one variant or another and the accompanying symptoms are very likely the consequence. As for the relative risks, I'm again constrained to point out that they may pale by comparison to any progression that would further contraindicate surgical intervention. Thank you very much for posting the image and for standing your ground, for it serves as proof that at 84 years of age, you're never too old to learn. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • February 11, 2009
    • 02:00 AM
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  • Dr Cottle, thank you so much for helping Waller! I am always so impressed with your knowlege :) :) :)
    Felsen 510 Replies
    • February 14, 2009
    • 05:55 PM
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  • I'm sorry that I can't offer more information or direction at this point, but would be interested in observing addtional imaging studies if available. I will be glad to look into the matter a bit further. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • February 15, 2009
    • 02:36 AM
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