J Mov Disord.  2018 Sep;11(3):145-148. 10.14802/jmd.18028.

A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism

• Choi JH
• Lee JY
• Kim HJ
• Jeon B

• KMID: 2438832
• DOI: http://doi.org/10.14802/jmd.18028

Abstract

The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically proven DM type 1 and parkinsonism that developed ahead of muscle symptoms with bilateral putaminal, presynaptic dopaminergic deficits on imaging. A 54-year-old female patient presented with bradykinesia, axial and bilateral limb rigidity, stooped posture, and hypomimia, which did not respond to levodopa. At age 56, she developed neck flexion weakness. Examination showed bilateral facial weakness, percussion and grip myotonia, and electromyography confirmed myotonic discharges. A genetic study of DM type 1 showed a DMPK mutation. At age 58, gait freezing, postural instability, and frequent falling developed and did not respond to increasing doses of levodopa. At age 59, the patient died from asphyxia.

Keyword

WordsaaParkinsonism; parkinsonian disorders; myotonic dystrophies; myotonic dystrophy 1

MeSH Terms

Accidental Falls
Asphyxia
Electromyography
Extremities
Female
Freezing
Gait
Hand Strength
Humans
Hypokinesia
Levodopa
Middle Aged
Myotonia
Myotonic Dystrophy*
Neck
Parkinsonian Disorders*
Percussion
Posture
Levodopa