This gentleman has been following up since 2 decades!
An expert diagnosis made by someone when exotic tests were unavailable. A life-altering diagnosis for not just the patient, but also his family!
What would have otherwise been labelled as a progressive degenerative disease !
An expert diagnosis made by someone when exotic tests were unavailable. A life-altering diagnosis for not just the patient, but also his family!
What would have otherwise been labelled as a progressive degenerative disease !
Like last time, let's try reconstructing it
Predominantly a dystonic syndrome
Clinical
Age of onset: Childhood/Adolescent
Distribution: Lower limb, and then upper limb and cervical
Temporal Pattern: Progressive
Specific Features: Paroxysmal & DOPA RESPONSIVE!!!
Predominantly a dystonic syndrome
Clinical
Age of onset: Childhood/Adolescent
Distribution: Lower limb, and then upper limb and cervical
Temporal Pattern: Progressive
Specific Features: Paroxysmal & DOPA RESPONSIVE!!!
Etiology
Inherited, likely
The progressive course, and more telling is the significant family history of a younger sister having similar complaints
This clinical picture is highly suggestive of DYT 5 or SEGAWA Disease!
Inherited, likely
The progressive course, and more telling is the significant family history of a younger sister having similar complaints
This clinical picture is highly suggestive of DYT 5 or SEGAWA Disease!
Segawa Disease or DYT-5 or DRD (DOPA responsive dystonia)
Usually presents during childhood, with a foot dystonia. Diurnal fluctuations in symptoms are noted.
A critical diagnosis to make because it is a treatable disease!
Some Dopa a day keeps the dystonia away. How?
Usually presents during childhood, with a foot dystonia. Diurnal fluctuations in symptoms are noted.
A critical diagnosis to make because it is a treatable disease!
Some Dopa a day keeps the dystonia away. How?
The basic defect lies in a mutation of the GCH1 gene, that is required to synthesis tetrahydrobiopterin (BH4)
BH4 is essential for functioning of enzymes phenylalanine and tyrosine hydroxylase
These are precursors to Dopamine synthesis
See the first step! Enzyme and CO-ENZYME!
BH4 is essential for functioning of enzymes phenylalanine and tyrosine hydroxylase
These are precursors to Dopamine synthesis
See the first step! Enzyme and CO-ENZYME!
If one were to test CSF Biopterin, it would be reduced.
This disease is tough to diagnose even with genetic testing
Giving a fairly modest dose of Levodopa mitigates the clinical features very significantly
This disease is tough to diagnose even with genetic testing
Giving a fairly modest dose of Levodopa mitigates the clinical features very significantly
This patient (and also affected members of his family) have been on regular follow up. Dystonia is still very well controlled with modest doses of Levodopa.
Contrasting this how much patents with other inherited dystonia have to suffer, it's absolutely critical to give a "Levodopa Trial" for patients with inherited dystonia, and to always consider diseases like this. Not all degenerative is untreatable!
The seniors from my department made such a great diagnosis decades ago, almost purely on clinical grounds, and the family still benefits from it today.
Sound knowledge of Basic Sciences and Wisdom to apply it in Neurology!
Sound knowledge of Basic Sciences and Wisdom to apply it in Neurology!
Of course, there are variants to this disease. This is just a simplified overview. If nothing, I hope the message is clear. If your patient has dystonia, keep in mind DYT-5. Keep in mind "LEVODOPA TRIAL"
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