NEUROLOGY COMMUNITY
axonopathy

axonopathy

We have a child now 5 yrs age. He started walking at around 1 yr of age but with an abnormal gait and continued to do so till 4 yrs of age though he was required to be made to stand(he was unable to get up on his own). Since 4 yrs age he is unable to walk without support, requires support and splints and knee cage to walk i.e. progressive weakness involving the lower limbs. he has normal IQ, no h/o seizures. His investigations are:
1) Lactate, pyruvate, CPK all normal.
2) SMN and NAIP gene no deletions seen ( Bombay hospital)
3) Muscle biopsy (NIMHANS) S/O retarted maturation/arrest of the muscle fibers and compensatory change in the adjacent ones- SMA II
4) EMG NCV (Hinduja hosp) e/o diffuse motor axonopathy probably at the level of peripheral nerve.
5) ANA negative
6) Immunoglobulins normal.
7) Anti glycolipid antibody- normal
8) Hexosaminidase- normal.
9) Heavy metals lead arsenic thallium and mercury all normal.
10) SMN 1 gene (sir gangaram hospital) no deletions seen
11) repeat EMG NCV is
--B/L sural SNAPs are normal
-- B/L `H` reflexes are absent
--B/L tibials and left peroneal nerve are inexcitable.
--right peroneal nerve shows mild increase in distal latency with significant drop in CMAP amplitude as well as moderate reduction in conduction velocity and absent `F` waves
--reduction in CMAP amplitude of right median nerve.

---impresionE/O predominantly AXONOPATHY affecting predominantly the motor fibres bilaterally.


on examination-
there is no hypertrophy of the muscles.
fasciculation is seen in the tongue. reflexes in the lower limbs are absent.

what could be the diagnosis?
is it possible to have sma despite the SMN gene being normal?
i want to know more on axonopathy and its treatment.
Related Discussions
Post a Comment
To
Comment
Post A Comment
Go
Blank
Mood Tracker
See what affects your mood
Start Tracking Now
Blank
Pain Tracker
Track location and severity
Start Tracking Now
MedHelp Health Answers
Submit
Blank
Moody Me
Have more happy days!
Download Now
Top Neurology Answerers
620923_tn?1335125657
Blank
selmaS
Allentown, PA
1475492_tn?1332887767
Blank
Sidesteps
Seattle Area, WA
338416_tn?1260996698
Blank
jensequitur
Fort Worth, TX
Avatar_f_tn
Blank
ggreg
NC
999891_tn?1330652344
Blank
rod44
Cork city, Ireland
1548028_tn?1324616046
Blank
ku111
RSS Expert Activity
1741471_tn?1336957856
Blank
LIVE WEBINAR TOMORROW!-SUPER BODY, ... Blank
May 22 by Michael Gonzalez-WallaceBlank
2126606_tn?1335910182
Blank
Fibromyalgia Awareness
May 11 by Clare Waismann Kavin, RASBlank
2126606_tn?1335910182
Blank
Opioid-induced hyperalgesia reduces...
May 03 by Clare Waismann Kavin, RASBlank