Movement disorders in neuro-metabolic diseases.
Eur J Paediatr Neurol
; 14(4): 304-7, 2010 Jul.
Article
in En
| MEDLINE
| ID: mdl-20015670
ABSTRACT
Inborn errors of metabolism (IEM) are a group of genetic disorders characterized by dysfunction of an enzyme or other protein involved in cellular metabolism.(1) Most IEMs involve the nervous system (neuro-metabolic diseases or NMD). NMD often present with a complex clinical picture psychomotor retardation and/or regression, pyramidal signs, ataxia, hypotonia and epilepsy and movement disorders.(1) Movement disorders are more frequently part of this complex picture than a predominant symptom, however in some instances the clinical picture may be summarized in an invalidating movement disorder.(2) On a phenomenology basis, one can distinguish eight main types of movement disorders dystonia and athetosis, chorea, tremor with or without parkinsonism, ballismus, myoclonus, tics and stereotypies. Most of these abnormal involuntary movements generate from a dysfunction or a lesion in the basal ganglia, excepting myoclonus, the origin of which can vary (cortical, brainstem, basal ganglia, spinal and even peripheral nervous system).(3) Classically the most frequently observed movement disorders in NMD are dystonia, myoclonus, chorea, tremor and parkinsonism (Fig. 1). The primary goal of this article is, departing from the literature and a large personal series, to describe the types of movement disorders most frequently observed in NMD and to discuss their clinical value in the setting of specific types of NMD.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Metabolism, Inborn Errors
/
Movement Disorders
/
Nervous System Diseases
Type of study:
Qualitative_research
Limits:
Humans
Language:
En
Journal:
Eur J Paediatr Neurol
Year:
2010
Document type:
Article