2. Introduction
Rare Inherited disease.
Incidence : 1 : 10 000 (world wide).
Characterized by Progressive muscle weakness and wasting .
Gene mutation.
Skeletal Muscles are affected. Later Fat and connective tissue
replaces the muscle fibre.
Syn : Myodysrophy, Myodystrophia .
Types : 30
No cure ........ But can slow down the progression by
medications and other therapies.
3.
4. First historical account of Md. is appeared in 1830. by Sir
Charles Bell. After 1850 a French neurologist Guillaume
Duchenne gave a comperhensive account on Md.
In 1864, Dr. Edward Meryon recognize the maternal
inheritence .
In the late 1970 , genetic studies linked the Duchenne gene
to chromosome Xp21.
In 1987 , dystrophin were discovered .
Historical overview
5. Muscular Dystrophy
The word dystrophy is derived from the Greek word ‘dys’
means difficult and ‘troph’means nourish.
Affects people of either Sex and of all age.
It refers to a group of more than 30 genetic diseases
In most of the cases the Muscles ( Vouluntary muscles) are
affecting but In some cases the invoulantary muscles and
other organs too are affected.
6. Conti..
General Clinical symptoms -
1. Muscle weakness
2. Delayed development of motor muscle skills
3. Progressive muscle wasting
4. Difficulty using one or more muscle groups
5. Drooling
6. Eyelid drooping
7. Frequent falls
8. Lose of muscle strength, size
9. Waddling gait
10. Calf deformation and Respiratory difficulty
7. Contin...
Early onset Symptoms-
1. Neonatal hypotonia
2. Generalised muscle weakness
3. Recurrent aspiration
4. Weak cry
5. Prominent head lag
6. Decreased Muscle bulk,Tendon reflex
7. Delayed motor milestone.
8. Types and classification
Based on gene mutation-
DMD & BMD LGMD, CMD
Involve mutations in the
dystrophin gene
Involve mutations in several
genes
X-linked inheritance Autosomal recessive
Inheritance
• DEFECTS, in
Intracellular muscle cell protein
• DEFECTS, in
Extra-cellular Matrix
• In BMD
Dystrophin is partially functional or
its reduced expression is seen.
• In DMD
Dystrophin gene is missing
9. Duchenne’s Muscular Dystrophy
Inheritance - X-Linked recessive
Defective gene / Protein - Dystrophin
Onset age - Before 5 years
Clinical features -
Progressive weakness of gridle muscles,
Unable to walk after age 12,
Progressive Khyphoscoliosis and
Respiratory Failure in 2nd or 3rd decade of life.
Other organ/ systems involved - Mental impairement
Cardiomyopathy,
Respiratory system
12. Becker’s Muscular Dystrophy
Inheritance - X-Linked
recessive
Defective gene / Protein- Dystrophin
Onset age - Early childhood to
adult
Clinical features -
Progressive weakness of gridle muscles
Able to walk after age 15
Respiratory Failure in 2nd or 3rd decade of
life.
Other organ/ systems involved- Cardio
14. Limb Gridle Muscular Dystrophy
Inheritance -
May be Autosomal dominant or Autosomal
recessive
Defective gene / Protein - Several
( e.g Sarcoglycans, Dysferlin, Calpain-3 etc...)
Onset age - Early childhood to early
adult
Clinical features - Slow progressive
weakness of shoulder and hip gridle muscles.
Other organ / systems involved -
Cardiomyopathy
15.
16. Myotonic Muscular dystrophy
Features DM1 DM2
Inheritance Autosomal dominant Autosomal dominant
Defective gene Expansion CGT repeat Expansion CCGT
repeat
Onset age Childhood to adult Maybe Infancy if mother
affected
Clinical
features
Slowly progressive
weakness of face shoulder
gridle and foot dorsiflexion
Proximal muscle
weakness
Other organ/
systems
involved-
Cardiac Conduction defects
Mental
impairment,Cataract,
Frontal baldness,
Gonadal Atrophy.
17.
18. Facioscapulohumeral Muscular
Dystrophy
Inheritance - Autosomal dominant
Defective gene / Protein - DUX4 4q
Onset age - Childhood to Adult
Clinical features - Fascioscapulohumeral muscular
dystrophy is characterized by weakness of the facial, upper limb, and
shoulder girdle muscles. Weakness of the anterior tibial muscles
produces a footdrop gait, there is also scapular instability, marked
limitation in arm abduction, and the characteristic scapular winging.
Other organ systems involved – Hearing loss and retinal
venous anomalies are common.
19.
20. Oculopharyngeal Muscular
Dystrophy
Inheritance - Autosomal dominant
Defective gene / Protein- Expansion poly- A
RNA binding protein
Onset age - 5th to 6th decade of life
Clinical features - Slow progressive
weakness of extraoclular and limb muscles
along with progressive dysphagia, ptosis, and
proximal muscle weakness.
When ptosis is severe, the patient tilts the head
back and contracts the frontalis muscle in order
to see.
21.
22. Laboratory findings for
Diagnosis
Serum CK levels (20 -100 times elevated, than normal)
EMG reveals features typical of myopathy
Muscle biopsy (necrotic and regenerating muscle fibres)
Mutation Analysis (using Peripheral blood leukocytes.)
Western Blot Analysis (using muscle biopsy specimen)
Immunocytochemical staining of muscle with dystrophin
antibodies.
Ultra sonography
For Carriers detection, dystrophin analysis, using
muscle biopsy is not reliable.
23. Treatment
IN DMD
Glucocorticoids
Prednisone in a dose of 0.75 mg/kg per day
IN MYOTONIC
Mexiletine, Phenytoin, Quinine,Procainamide , Carbamazepine
Assistive devices includes Braces, Canes,
Wheelchair,Walker, Ventilator.
Gene therapy
Physical therapy, Hydrotherapy (hot bath)
24. Surgery
Tendon release surgery ( eg at Achilles tendon, hip , knee)
Surgery also helps to correct the curvatures of spine.
26. Lakshana ( similarity with Md)-
Mamsa Kshaya Mamsa Gada vata Snayu gada vata
Indriya dourbalyam Gurvanga Bahya abhyantara
ayaama m
Ganda ,swik shushkatha Tudhyate (like beaten
with danda , Mushti
etc..)
Khalli
Sandhivedana Srama along with pain Kubhjatwam
Sarvaanga/ ekanga
rogam
27. Role of Panchakarma
Deepana Pachana
Agni is considered as the whole and sole responsible for the
dhatupaka.Amapachana also
e.g Trikatu, Hinguvashtaka
Langhana
Rukshana with
e.g Udvarthana It provides the benefits like Sthirikarana anga ,
Dhanyamla dhara helps to remove the srotorodha
Snehana bahya and abhyantara Snehana
Abhyanga – Mahamasha th, Mahanarayana th,
Balashwagandhalakshadi. th
Swedana
It relieves the pain due to the stiffness of muscles.
Shastika shali Pinda sweda, Bashpasweda, Nadisweda
28. Shodananga snehapana
Amrutaprasha ghrita, Tikthaka ghrita Can be
used.
Mridu Vamana
If the patient satisfies the conditons like Kaphagata
pitta, Utklesha kapha.It corrects the depletion of
medas.
Vamana with - Vacha, Madanaphala
Mirdu Virechana
Helps to bring the Anulomana and Tridoshahara
29. Bhrimhana Basthi
It should be in a kala or karma basti pattern.
Yapana basthi, Ksheera basthi, Using Mamsa rasa,
Madanaphala in basthi.
Anuvasana Basthi
Tikta ghrita, Aswagandha ghrita, Chagalayadi ghritam.
30. Nasya
It is having less importance but it can be used
in the Md associated with depression .
e.g Bhrimhana Nasya
32. Articles
THERAPEUTIC EFFICACY OF
PANCHAKARMA IN MUSCULAR
DYSTROPHY- A CASE STUDY
(INTERNATIONAL AYURVEDIC MEDICAL JOURNAL)
A 12 yrs old male patient, c/o- Weakness in lower limbs, Difficulty
while walking, climbing stairs and running since 4 years.
Decreased muscle bulk around pelvic and thigh region and
increased muscle bulk in calf muscles since 3 years
Treatment given –
Total 4 sittings. 1 st sitting
1. SarvangAbhyanga (Mahanarayana oil) - 14
days 2. YapanaBasti (MamsaRasa) - 8 days
33. Second sitting :
1. Tail Dhara (Dhanwantaram tailam) - 14 days
2. Yoga Vasti-Dashmoola Kwath Niruham Vasti
3. Anuvasana Vasti – Dhanwantaram tailam
Third sitting:
1. Udvartana – 3 days followed by ShashtiShaliPinda Sweda for 14
days
2. Yoga Vasti –Yapana Vasti (Mamsa Rasa)
Fourth sitting :
1. Udvartana for 3 days followed by ShashtiShaaliPinda Sweda –
14 days 2. Yoga Vasti - Dashmoola Kwatha Niruham
3.Anuvasana Vasti - Dhanwantaram tailam
34. Muscle Bulk Thigh: 12.5 inch (B/T), 13 inch (A/T)
Calf muscles hypertrophy : 14.2 inch (B/T), 13.8 inch (A/T)
Reflex (knee jerk) Diminished (B/T) , (A/T) No change
Power (lower limb) Right
Left (B/T) (A/T) 4/5 NO CHANGES
Toe walking: Present (B/T), Not Present (A/T)
Serum CPK : 916 U/L (B/T)
256 U/L (A/T)