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Dyssynergia cerebellaris myoclonica

MedGen UID:
331781
Concept ID:
C1834580
Disease or Syndrome
Synonyms: Myoclonus and ataxia; RAMSAY HUNT SYNDROME; Ramsay Hunt syndrome type 1 (formerly)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
OMIM®: 159700
Orphanet: ORPHA3020

Clinical features

Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
Kinetic tremor
MedGen UID:
65875
Concept ID:
C0234376
Sign or Symptom
Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.
Generalized seizures
MedGen UID:
115963
Concept ID:
C0234533
Disease or Syndrome
Seizures of with initial involvement of both cerebral hemispheres.
Pallidal degeneration
MedGen UID:
140731
Concept ID:
C0393577
Disease or Syndrome
Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.
Abnormality of the dentate nucleus
MedGen UID:
867758
Concept ID:
C4022148
Anatomical Abnormality
An abnormality of the dentate nucleus.
Ragged-red muscle fibers
MedGen UID:
477048
Concept ID:
C3275417
Finding
An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.
Abnormality of the mitochondrion
MedGen UID:
866483
Concept ID:
C4020732
Anatomical Abnormality
An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDyssynergia cerebellaris myoclonica

Recent clinical studies

Etiology

Shibasaki H, Shima F, Kuroiwa Y
J Neurol 1978 Sep 12;219(1):15-25. PMID: 81281

Diagnosis

Wiest G, Mueller C, Wessely P, Steinhoff N, Trattnig S, Deecke L
Acta Otolaryngol Suppl 1995;520 Pt 2:392-4. PMID: 8749170
Watters GV, Zlotkin SH, Kaplan BS, Humphreys P, Drummond KN
Can J Neurol Sci 1981 Feb;8(1):55-60. PMID: 7225958
Benassi E, Abbruzzese M, Ottonello GA, Tanganelli P
Ital J Neurol Sci 1981 May;2(2):159-63. PMID: 6800975

Therapy

Varsik P, Buranová D, Kollár B, Traubner P, Bozek P, Mikulecký M
Neuro Endocrinol Lett 2005 Feb;26(1):7-12. PMID: 15726012
Somerville ER, Olanow CW
Arch Neurol 1982 Aug;39(8):527-8. PMID: 6808979
Bergamasco B, Riccio A
Electroencephalogr Clin Neurophysiol 1967 Aug;23(2):192. PMID: 4166746

Prognosis

Watters GV, Zlotkin SH, Kaplan BS, Humphreys P, Drummond KN
Can J Neurol Sci 1981 Feb;8(1):55-60. PMID: 7225958

Clinical prediction guides

Varsik P, Buranová D, Kollár B, Traubner P, Bozek P, Mikulecký M
Neuro Endocrinol Lett 2005 Feb;26(1):7-12. PMID: 15726012
Benassi E, Abbruzzese M, Ottonello GA, Tanganelli P
Ital J Neurol Sci 1981 May;2(2):159-63. PMID: 6800975
Bergamasco B, Riccio A
Electroencephalogr Clin Neurophysiol 1967 Aug;23(2):192. PMID: 4166746

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