Spinal muscular atrophy is a rare genetic disorder that results in degeneration of motor neurons in the spinal cord and progressive muscle wasting. It has an incidence of about 1 in 10,000 live births. The disease is caused by mutations in the survival motor neuron gene (SMN1) and its severity depends on the number of copies of the backup gene SMN2. Symptoms vary depending on the type of SMA but commonly include muscle weakness, difficulty sitting and walking, and respiratory issues. Diagnosis involves genetic testing, electromyography, and muscle biopsy. Treatment focuses on respiratory support, nutrition, physical therapy, and the drug nusinersen to address the underlying genetic defect. Ayurveda management principles include

1. SPINAL MUSCULAR ATROPHY –
DIAGNOSIS
AND
TREATMENT
Dr. Shailesh
Department of Panchakarma
SDM College of Ayurveda and Hospital
Hassan

2. contents
 Definition
Epidemiology
 Pathogenesis
Types
Symptomatology
Differential Diagnosis
Investigations
Management
Probable ayurvedic co-relation and management
Research articles
Conclusion

3. definition
Spinal muscular atrophy, is an autosomal
recessive disease that results from
degeneration of motor neurons of the spinal
cord.
It is a rare neuromuscular disorder
characterised by loss of motor neurons and
progressive muscle wasting, often leading to
early death.

4. Epidemiology
The incidence of spinal muscular atrophy is about one in 10,000 livebirths
with a carrier frequency of one in 50

5. Pathogenesis
The mutations affect the gene at what has
been termed the “survival of motor neuron”
(SMN) site
SMN protein participates in forming protein-
RNA complexes
Within SMN locus there are two genes: SMN1,
which generates a full-length , fully functional
form of SMN, and SMN2, which makes a
truncated, partially functional SMN

6. Some individuals have more than two copies
of SMN 2
As a result, loss of both copies of SMN1 may
cause very severe SMA in some individuals (in
whom only one copy of SMN2 compensates for
loss of SMN1), while others with multiple copies
of SMN2 have milder disease. Thus, the amount
of SMN1 and SMN2 protein determines the
severity of disease

7. Symptomatology
Areflexia, particularly in extremities
Overall muscle weakness, poor muscle tone,
limpness or a tendency to flop
Difficulty achieving developmental
milestones, difficulty sitting/standing/walking
In small children: adopting of a frog-leg
position when sitting (hips abducted and
knees flexed)
The symptoms vary greatly depending on the SMA type
involved, the stage of the disease, and individual factors;
they commonly include:

8. Loss of strength of the respiratory
muscles: weak cough, weak cry (infants),
accumulation of secretions in the lungs or
throat, respiratory distress
 Bell-shaped torso (caused by using only
abdominal muscles for respiration) in
weaker SMA types
Fasciculation's (twitching) of the tongue
Difficulty sucking or swallowing, poor
feeding

9. TYPES OF THE SPINAL MUSCULAR ATROPHIES (SMA)

11. Differential Diagnosis
 Congenital myopathies
The glycogenoses
Neonatal myasthenia gravis
Prader-willi syndrome
Disorders of fatty acid metabolism

12. INVESTIGATIONS
Electromyography, EMG can be used to determine whether the disease
has affected motor neurons, nerve roots, peripheral nerves, myoneural
junction or muscle fibers
Muscle biopsy after 1 month of age reveals a typical picture of group
atrophy; shortly after birth this change is difficult to discern.
Genetic investigation, Molecular genetic tests provide definitive diagnosis
of SMA and could be the only tests performed.

13. MANAGEMENT
Respiratory care
 Patients are either always lying down or get up very little mean that they
have a limited capacity to cough and remove secretions from the lower
respiratory tract.
 As a result of this they are prone to recurrent infections which
exacerbate the muscle weakness (particularly of the respiratory
muscles),and can lead to atelectasis and pulmonary collapse.
 Additionally, these children may suffer from nocturnal hypoventilation
and underdevelopment of the lungs and chest wall.

14.  Pulmonary physiotherapy and postural drainage.
 Rapid access to antibiotic therapy.
 Physiotherapy to prevent and treat bone deformities and respiratory
disorders.

15. Nutritional care
High fat foods should be avoided because they delay gastric emptying and
increase the risk of gastric reflux to occur.
Foods rich in fibres and water to avoid constipation.
Parenteral calorie supplementation should be considered in order to avoid
muscle catabolism in children with low fat reserves.

16. Orthopaedic care
Postural deformities(scoliosis), limitations to mobility and the ability to
carry out daily activities, increased risk of pain, osteopenia and fractures.
Weakness of the paraspinal muscles means that scoliosis progresses
gradually and should be monitored regularly, adaptation of daily activities,
mobility with a wheelchair or walking frame, ortheses for limbs and therapies
that encourage the development of mobility, prolonging the child's survival
rate and alleviating the burden of the disease plays a vital role in treating
the patient.

17. Regular exercise, such as swimming or other appropriate sports, is
important to recover the self-esteem of these children.
(Mutant rats that were forced to run in a wheel exhibited an impressive
increase in survival time, compared with non-exercised rats, and they
also observed a reduction in modularly motor neuron death)

18. PHARMACOLOGICAL
Nusinersen is the only approved drug to treat spinal muscular atrophy. It is
a proprietary antisense oligonucleotide administered directly to the central
nervous system using an intrathecal injection.

19. Video

20. PROBABLE AYURVEDIC CO-RELATION AND
MANAGEMENT
Udanavruta praana: (cha chi 38/208)
कर्मौजोबलवर्णानणां नणशो र्मृत्युरथणपि वण|
उदणनेनणवृते प्रणर्े तां शनैः शीतवणररर्ण||२०८||
पिञ्चेदणश्वणियेच्चनां िुखां चवोििणदयेत्|
lf prana-vayu is occluded by udana-vayu then there will be loss of the
functions of different parts of the body, ojas (vital essence), strength and
complexion. There may even be the death of the patient.
Kaphavruta udana: (cha chi 38/224)
Kaphavruta prana vayu
Kaphavruta vyana vayu

21. MANAGEMENT PRINCIPLES
 To remove avarana of kapha
Followed by kevala vata chkitsa (dhatu kshaya chikitsa)
To maintain the agni in equillibrium ( to prevent further vitiation of kapha
and also to promote proper nourishment of dhatus)
In initial stage katu rasa, ushna virya aushadis are given
Then madhura aushadis are given to treat kevala vata avastha

22. RELATED ARTICLES

26. a)ABHYANGAM –Bala taila.
b) PINDA SWEDAM – Shali dhanya (Rakta), Balamoola kwath, Milk, cloth and 2
vessels.
c) VASTI- Madhu, saindavam, Shatapuspa, Tailam (Bala tail), Gomutram,
Kashaya – prepared with Balamoola, Dasamoola, Yasti, Raasna quath churna

28. For Udvartana : Yava (barley) and Kulattha Churna (powder of horsegram) in
same proportion for 20 mins
For Abhyanga : Bala Taila -20 mins (for 5 days) followed by Nadi Swedana for
20 mins
Yoga Basti : for Aasthapana (decoction based) Madhutailika Basti and for
Anuvasana (oil based)
The ingredients of Madhutailika Basti which was used for Aasthapana were as
follows.
1. Erandamula Kwatha (decoction of the roots of Ricinus communis ) – 8 Pala
(48 gms); Madhu (honey) – 4 Pala ; Taila (oil) – 4 Pala ; Shatapushpa Kalka
(paste of Anethum sowa) – ½ Pala ; Saindhava (rock salt) – ½ Pala BalaTaila

30. CONCLUSION
Both medical follow-up and palliative care are important throughout SMA patient’s entire lives.
This care includes respiratory and nutritional support, and orthopaedic and physiotherapeutic
care to avoid postural disorders.
The objective is to retard the progress of the disease and improve residual muscle function.
Through a combination of medical care and rehabilitation, many patients with SMA can have
fulfilling and productive lives and often have normal life expectancy.
Through genetic counseling, parents, who are carriers of SMA, should be encouraged to be
cautious when planning future pregnancies because the risk of having children with the same
heritage does not go away.

32. THANK YOU