Clinical Synopsis - #616795 - SPINOCEREBELLAR ATAXIA 42; SCA42 - OMIM
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SPINOCEREBELLAR ATAXIA 42; SCA42


INHERITANCE
- Autosomal dominant

HEAD & NECK
Eyes
- Nystagmus
- Diplopia
- Saccadic pursuit

ABDOMEN
Gastrointestinal
- Dysphagia (in some patients)

GENITOURINARY
Bladder
- Urinary urgency (in some patients)

NEUROLOGIC
Central Nervous System
- Spinocerebellar ataxia
- Gait instability
- Dysarthria
- Tremor (in some patients)
- Pyramidal signs (in some patients)
- Hyperreflexia (in some patients)
- Spasticity (in some patients)
- Myokymia orbicularis (in some patients)
- Cerebellar atrophy
Peripheral Nervous System
- Decreased distal vibratory sense (in some patients)

MISCELLANEOUS
- Variable age at onset (range 9 to 78 years)
- Slow progression

MOLECULAR BASIS
- Caused by mutation in the T-type voltage-dependent calcium channel, alpha-1G subunit gene (CACNA1G, 604065.0001)


Creation Date:
Cassandra L. Kniffin : 2/8/2016
Edit History:
joanna : 02/11/2016
ckniffin : 2/10/2016

# 616795

SPINOCEREBELLAR ATAXIA 42; SCA42


SNOMEDCT: 1208513005;   ORPHA: 458803;   DO: 0111742;  


INHERITANCE
- Autosomal dominant

HEAD & NECK
Eyes
- Nystagmus
- Diplopia
- Saccadic pursuit

ABDOMEN
Gastrointestinal
- Dysphagia (in some patients)

GENITOURINARY
Bladder
- Urinary urgency (in some patients)

NEUROLOGIC
Central Nervous System
- Spinocerebellar ataxia
- Gait instability
- Dysarthria
- Tremor (in some patients)
- Pyramidal signs (in some patients)
- Hyperreflexia (in some patients)
- Spasticity (in some patients)
- Myokymia orbicularis (in some patients)
- Cerebellar atrophy
Peripheral Nervous System
- Decreased distal vibratory sense (in some patients)

MISCELLANEOUS
- Variable age at onset (range 9 to 78 years)
- Slow progression

MOLECULAR BASIS
- Caused by mutation in the T-type voltage-dependent calcium channel, alpha-1G subunit gene (CACNA1G, 604065.0001)


Creation Date:
Cassandra L. Kniffin : 2/8/2016

Edit History:
joanna : 02/11/2016
ckniffin : 2/10/2016



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Aug. 31, 2024
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