SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (SCAN3)

Question 1

What is  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (SCAN3)?

Accepted Answer

very rare

autosomal recessive

mutation in the COA7 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618387

Disease	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (SCAN3)
OMIM	618387 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	1p32.3
ICD
Summary	very rare autosomal recessive mutation in the COA7 gene
Laboratory findings	Creatine kinase inc (serum) L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (serum)
Symptoms	ataxia cerebellar atrophy or hypoplasia dysarthria hyporeflexia intellectual disability/intellectual developmental disorder leukoencephalopathy MRI, brain, abnormalities [-] muscle atrophy muscle weakness onset, adolescent onset, childhood peripheral neuropathy tremor or twitching