Dystonia

Question 1

Combined Dystonia due to degeneration

Answer 1

Dystonia and parkinsonism

• PD
• PSP
• MSA
• CBD
• WD
• HD
• SCA
• DRD (dopamine responsive dystonia, DYT5a
• rapid onset dystonia parkinsonism-DYT12
• X linked dystonia parkinsonism (Lubag)-TAF1 gene, Philippines
• NBIA

Dystonia and eye movement disorder

• Niemann-Pick type 3
• Ataxia telangiectasia
• Ataxia oculomotor apraxia 1 and 2
• SCA
• WD
• HD
• PSP
• CBD

Dystonia + bulbar

• Neuroacanthocytosis
• NBIA
• WD

Dystonia + cerebellar

• SCA
• AT
• AOA1 and 2
• Friedreich ataxia
• Neuroacanthocytosis
• WD
• DRPLA
• MSA
• NP type C
• cervical dystonia and ataxia
• HD
• GM2 gangliosidosis

Dystonia + peripheral neuropathy

• Metachromatic leukodystrophy
• SCA
• Neuroacanthocytosis
• GM2

Dystonia + deafness

• mitochondrial
• Mohr Tranebjaerg syndrome
• woodhouse-Sakati syndrome

Question 2

Investigation

Answer 2

Labs:

• copper
• ceruloplasmin
• acanthocytes
• alpha-fetoprotein and Ig’s (AT)
• others

Brain/cervical MRI

• cervical (cervical dystonia)
• caudate atrophy
• iron deposition
• leukodystrophy
• white matter

Other

• slit lamp
• liver biopsy
• skin biposy