SCA Report - Oct 2015.pdf
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I have been diagnosed with spinocerebellar ataxia (Type 1) IS THERE ANY CURE?
![1 | P a g e
CENTER FOR MEDICAL GENETICS
CENTER FOR MEDICAL GENETICS
Office No 250/251, Ecstasy Commercial Building, Nirmal LifeStyle Pvt. Ltd, City of Joy, J.S.D Road,
Near Mulund West Station, Mumbai– 80.
REG NO-MOH-T/70/PNDT/2015
Office No 250/251, Ecstasy Commercial Building, Nirmal LifeStyle Pvt. Ltd, City of Joy, J.S.D Road,
Near Mulund West Station, Mumbai– 80.
REG NO-MOH-T/70/PNDT/2015
Name of patient – Arvind Srinivasan
Sex- Male Clinical Diagnosis: Family history of spino-cerebellar ataxia type 1
Age – 38 years Sample – Blood
Referred by – Self Test- SCA panel
Date 9th
October 2015
Method
Polymerase chain reaction using fluorescent primers as per Sequeiros J et al [European Journal
Human Genetics, 2010] protocol covering the following SCA types 1, 2, 3, 6 and 7. Fragment
sizing was done on capillary sequencer
Result
The patient has an expansion of one of the SCA1 alleles (the larger allele measures 45 repeats,
the smaller allele measures 32 repeats; range of repeat sizes in normal individuals is 19-38 and
range of repeat sizes in affected individuals is 40-82).
The patient has normal result for SCA2, SCA3, SCA6 and SCA7
Interpretation
The patient has inherited the dominant mutation for Spinocerebellar ataxia type 1. The patient is
presently asymptomatic. However, the neurologist should monitor for problems in speech and
coordination of movements. The inheritance is autosomal dominant, risk of transmission to his
future generation is 50 %.](https://image.slidesharecdn.com/scareport-oct2015-230204064100-d1bdd3e6/85/SCA-Report-Oct-2015-pdf-1-320.jpg)
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SCA Report - Oct 2015.pdf
- 1. 1 | P a g e CENTER FOR MEDICAL GENETICS CENTER FOR MEDICAL GENETICS Office No 250/251, Ecstasy Commercial Building, Nirmal LifeStyle Pvt. Ltd, City of Joy, J.S.D Road, Near Mulund West Station, Mumbai– 80. REG NO-MOH-T/70/PNDT/2015 Office No 250/251, Ecstasy Commercial Building, Nirmal LifeStyle Pvt. Ltd, City of Joy, J.S.D Road, Near Mulund West Station, Mumbai– 80. REG NO-MOH-T/70/PNDT/2015 Name of patient – Arvind Srinivasan Sex- Male Clinical Diagnosis: Family history of spino-cerebellar ataxia type 1 Age – 38 years Sample – Blood Referred by – Self Test- SCA panel Date 9th October 2015 Method Polymerase chain reaction using fluorescent primers as per Sequeiros J et al [European Journal Human Genetics, 2010] protocol covering the following SCA types 1, 2, 3, 6 and 7. Fragment sizing was done on capillary sequencer Result The patient has an expansion of one of the SCA1 alleles (the larger allele measures 45 repeats, the smaller allele measures 32 repeats; range of repeat sizes in normal individuals is 19-38 and range of repeat sizes in affected individuals is 40-82). The patient has normal result for SCA2, SCA3, SCA6 and SCA7 Interpretation The patient has inherited the dominant mutation for Spinocerebellar ataxia type 1. The patient is presently asymptomatic. However, the neurologist should monitor for problems in speech and coordination of movements. The inheritance is autosomal dominant, risk of transmission to his future generation is 50 %.
- 2. 2 | P a g e CENTER FOR MEDICAL GENETICS CENTER FOR MEDICAL GENETICS Office No 250/251, Ecstasy Commercial Building, Nirmal LifeStyle Pvt. Ltd, City of Joy, J.S.D Road, Near Mulund West Station, Mumbai– 80. REG NO-MOH-T/70/PNDT/2015 Office No 250/251, Ecstasy Commercial Building, Nirmal LifeStyle Pvt. Ltd, City of Joy, J.S.D Road, Near Mulund West Station, Mumbai– 80. REG NO-MOH-T/70/PNDT/2015 Limitation of test Molecular tests have an error rate of 2 %. Dr Vasundhara Chennuri Consultant, Center for Medical Genetics Figure: Electropherogram showing the expanded allele of SCA1 gene