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Items: 3

1.

Spinocerebellar ataxia, autosomal recessive 32

Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. The disorder is slowly progressive. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy (Rebelo et al., 2021). [from OMIM]

MedGen UID:
1802496
Concept ID:
C5676978
Disease or Syndrome
2.

Myoclonus, familial, 2

Familial myoclonus-2 is an autosomal dominant neurologic condition characterized by childhood onset of isolated action-induced nonepileptic myoclonus affecting the upper limbs. The disorder is nonprogressive (Wagnon et al., 2018). [from OMIM]

MedGen UID:
1683864
Concept ID:
C5193056
Disease or Syndrome
3.

Limb myoclonus

MedGen UID:
1368754
Concept ID:
C4477055
Sign or Symptom
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