Small muscular atrophy is a rare genetic disorder in which there is a deficiency of SMN Gene not able to produce SMN protein which is responsible for muscle weakness due to an unavailability of protein for motor neurone activity.

1. SMALL MUSCULAR
ATROPHY
Mr. Santosh Sopanrao Sarnaik
M.S. Pharmaceutics
CEO Only Pharmacy

2. INTRODUCTION
• It is neuronal genetic disease of motor neuron
• In the spinal cord loss of nerve cells of motor types takes place
• It is basically cause due to defective gene or non availability of gene
• Muscle becomes weak
• SMN Protein
• SMN Gene

3. SYMPTOMS
• Progressive loss of muscle control, movement, and strength
• Neck and torso muscle becomes weak
• Some of them cant walk and some cant talk
• Some of them cant stand
• Strengthing of the muscle getting reduced
• Loss of action

4. DIAGNOSIS
Genetic test
Muscle
biopsy
Blood test
Nerve
conduction
test

5. TYPES
Severe Intermediate Mild Adult

6. SEVERE
• Also called Werdnig-Hoggman disease
• Difficulty in swallowing and sucking
• They cant hold their head or sitting
• Most of the children die before their second birthday
• More prone to respiratory infections
• Collapsed lung

7. INTERMEDIATE
• Also called Dubowitz disease
• Between 6 month – 18 months
• Affects lower limbs
• Able to sit but cant walk
• Most of them alived upto adulthood

8. MILD
• Also called kugelbert- welander or juvenile- onset SMA
• After 18 month
• Some people do not have any sign upto adulthood
• Mild muscle weakness
• Difficulty in walking or standing
• frequent respiratory infection
• Doesn’t shorten life expectancy

9. ADULT
• 30 years after
• Muscle weakness progressively slowly increased
• Full alives

10. TREATMENT
• Disease – modifying therapy
• Gene replacement therapy
Disease – modifying therapy -
Nusinersen ( 2-12years) injection in spinal canal
Risdaplam (older than 2months) oral medication

11. CONT
• Gene replacement therapy-
Onasemnogene abeparvovec-xioi replace faulty gene

12. CONCLUSION
• SMA is rare and very dangerous disease in which person can not either sit or
walk on the other hand some are not able to swallow and suck
• It can be managed either by gene therapy or drug therapy
• We must try to donate money to this person

13. REFERENCES
• www.google.com
• www.Wikipedia.com
• www.my.clevelandcllinic.com
• www.mda.org
• www.medlineplus.gov.com
• www.ninds.nih.gov
• www.youtube.com

14. Thank you!