Spinal muscular atrophy risk factor

Jump to: navigation, search

Spinal Muscular Atrophy Microchapters

Home

Patient Info

Overview

Epidemiology and Demographics

Risk Factors

Screening

Other forms

Molecular Biology

Genetics

Types

Diagnosis

Diagnosis

Full Differential Diagnosis

Symptom

Physical Examination

Electrolyte & Biomarker Studies

Electrocardiogram

Chest X Ray

MRI and CT

Echocardiography or Ultrasound

Other Imaging Findings

Pathology

Other Diagnostic Studies

Treatment

Outcome measures

Therapeutics development

Indications For Surgery

Research

Pre-Operative Assessment

Post-Operative Assessment

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Spinal muscular atrophy risk factor Resources

Most recent articles on Spinal muscular atrophy risk factor

Most cited articles on Spinal muscular atrophy risk factor

Review articles on Spinal muscular atrophy risk factor

Review articles on Spinal muscular atrophy risk factor

CME Programs on Spinal muscular atrophy risk factor

Powerpoint slides on Spinal muscular atrophy risk factor

Images of Spinal muscular atrophy risk factor

Ongoing Trials on Spinal muscular atrophy risk factor at Clinical Trials.gov

US National Guidelines Clearinghouse on Spinal muscular atrophy risk factor

NICE Guidance on Spinal muscular atrophy risk factor

FDA on Spinal muscular atrophy risk factor

CDC on Spinal muscular atrophy risk factor

Spinal muscular atrophy risk factor in the news

Blogs on Spinal muscular atrophy risk factor

Directions to Hospitals Treating Spinal muscular atrophy risk factor

Risk calculators and risk factors for Spinal muscular atrophy risk factor

Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS

Overview

  • ~98% of parents of an affected child are carriers. Whereas, the rest of 2% that are not carriers have denovo mutation.
  • The pattern of inheritance is autosomal recessive in SMA. The risk of occurrence/recurrence if both the parents are carriers is 25%, while the risk of having an unaffected carrier child is 50%.

This means that in every pregnancy there is

  • 1 chance in 4 (25% chance) that they will have a child who inherits both copies of the mutated gene. So, there will be no working gene product in the child and he/she will be affected by the condition.
  • 1 chance in 4 (25% chance) that their child will inherit both copies of the working gene and will be unaffected by the condition
  • 1 chance in 2 (i.e. 2 chances in 4; 50% chance) that their child will inherit the mutated gene and the working copy of the gene from each parent and he/she will be an unaffected carrier of the faulty gene, just like the parents i.e. carrier for the condition

References



Linked-in.jpg