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Branchial myoclonus with spastic paraparesis and cerebellar ataxia

MedGen UID:
349424
•Concept ID:
C1862071
•
Disease or Syndrome
Synonym: Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
 
Monarch Initiative: MONDO:0007234
OMIM®: 113610

Clinical features

From HPO
Palatal tremor
MedGen UID:
45286
•Concept ID:
C0030214
•
Sign or Symptom
Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.
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Spastic paraparesis
MedGen UID:
52432
•Concept ID:
C0037771
•
Sign or Symptom
Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
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Truncal ataxia
MedGen UID:
96535
•Concept ID:
C0427190
•
Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
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Atrophy of the spinal cord
MedGen UID:
235592
•Concept ID:
C1389102
•
Disease or Syndrome
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Cerebral cortical atrophy
MedGen UID:
1646740
•Concept ID:
C4551583
•
Disease or Syndrome
Atrophy of the cortex of the cerebrum.
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Nystagmus
MedGen UID:
45166
•Concept ID:
C0028738
•
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
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Recent clinical studies

Diagnosis

Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a new autosomal dominant disorder.
de Yebenes JG, Vazquez A, Rabano J, de Seijas EV, Urra DG, Obregon MC, Barquero MS, Arribas MA, Moreno JL, Alenda JR
Neurology 1988 Apr;38(4):569-72. doi: 10.1212/wnl.38.4.569. PMID: 3352913

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