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  • gene
  • Autosomal Dominant Guanosine Triphosphate Cyclohydrolase I Deficiency (Segawa Disease) Masaya Segawa, MD, PhD,1 Yoshiko Nomura, MD, PhD,1 and Nobuyoshi Nishiyama, PhD2 Autosomal dominant guanosine triphosphate cyclohydrolase I (GCH-I) deficiency (Segawa disease) is a dopa-responsive dystonia caused by mutation of the GCH-I gene located on 14q22.1-q22.2. (docme.ru)
  • Ann Neurol 2003;54 (suppl 6):S32-S45 Autosomal dominant guanosine triphosphate cyclohydrolase I (GCH-I) deficiency (Segawa disease) is a dominantly inherited dystonia that responds markedly to L-dopa and is caused by heterozygous mutation of GCH-I gene located on 14q22-q22.2. (docme.ru)
  • DOI: 10.1002/ana.10630 S32 Clinical Characteristics The clinical characteristics of the classic autosomal dominant GCH-I deficiency are shown in Table 1, and the symptoms clarified after the discovery of the causative gene are shown in Table 2. (docme.ru)
  • Characteristics
  • Main Characteristics of "Classic" Autosomal Dominant GTP Cyclohydrolase I Deficiency Early occurrence in childhood/age-related clinical course Diurnal fluctuation Postural dystonia throughout the course Postural tremor appears later No parkinsonian resting tremor Preservation of interlimb coordination No mental or psychological abnormalities No autonomic nervous symptoms Marked sustained response to L-dopa without any side effects Somatic symptom: deceleration of body length. (docme.ru)
  • clinical
  • Clinical neurophysiological studies showed no progressive decrement of DA activities. (docme.ru)
  • Often presenting at birth or in early childhood, Complex I deficiency is usually a progressive neuro-degenerative disorder and is responsible for a variety of clinical symptoms, particularly in organs and tissues that require high energy levels, such as brain, heart, liver, and skeletal muscles. (umdf.org)
  • Clinical examination revealed features suggestive of left sided internuclear ophthalmoplegia i. (thefreedictionary.com)
  • Diseases
  • The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). (wikipedia.org)
  • In both of these diseases, muscle involvement may begin unilaterally but always develops into a bilateral deficit, and the course is progressive. (wikipedia.org)
  • symptoms
  • A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. (abcam.com)
  • Primary symptoms of the disease are developmental delay, progressive intellectual disability, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. (wikipedia.org)
  • form
  • 2 Their functional significance remains controversial: in a small group of progressive myopathies, TA form the dominant or even the sole structural abnormality, but more commonly they appear as an accessory histopathological feature in a wide variety of neuromuscular disorders, both inherited and acquired. (bmj.com)
  • years
  • A 73 year old man presented with a history of diffuse muscular pain and progressive gait disturbance over two years. (bmj.com)