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Items: 3

1.

Spinocerebellar ataxia 43

Spinocerebellar ataxia-43 (SCA43) is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). [from OMIM]

MedGen UID:
934730
Concept ID:
C4310763
Disease or Syndrome
2.

Charcot-Marie-Tooth disease axonal type 2T

Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

MedGen UID:
864072
Concept ID:
C4015635
Disease or Syndrome
3.

Charcot-Marie-Tooth disease type 2

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [from MONDO]

MedGen UID:
124378
Concept ID:
C0270914
Disease or Syndrome
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