What is the diagnosis of Infantile Neuroaxonal Dystrophy?

Electrophysiology may be helpful for diagnosis of Infantile Neuroaxonal Dystrophy, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons.
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What is the diagnosis of Infantile Neuroaxonal Dystrophy?

Electrophysiology (nerve conduction velocities) may be helpful for diagnosis, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons. 


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