The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …

Dystonia is a hyperkinetic movement disorder characterized by abnormal movement or
posture caused by excessive muscle contraction. Because of its wide clinical spectrum …

The clinical evaluation of a patient with dystonia is a stepwise process, beginning with
classification of the phenomenology of the movement disorder (s), then formulation of the …

Mitochondrial disease presents with a wide spectrum of clinical manifestations that may
appear at any age and cause multisystem dysfunction. A broad spectrum of movement …

Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are
mitochondrial hereditary optic neuropathies, ie, the maternally inherited Leber's hereditary …

Objectives To summarise and discuss recent findings and future perspectives concerning
mitochondrial disorders (MIDs) affecting the retinal ganglion cells and the optic nerve …

Background The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome
(also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by …

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The syndrome of deafness‐dystonia is rare and refers to the association of hearing
impairment and dystonia when these are dominant features of a disease. Known genetic …

Abstract Background Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive
neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia …