muscular dystrophy case presentation

1. 1
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2. RAJESH.K
2ND YEAR PG SCHOLAR
DEPT OF KAYACHIKITSA
CLINICAL DISCUSSION
2

3. Patient Data
Name :Harish
Age : 15 years
Sex :Male
Religion :Hindu
Socio-Economic status :Lower middle class
Education : 9th standard
Occupation : Student
3

4. Date of Admission :20/05/2015
Ward :MGW
Source of History :Patient, mother of patient
Case taken on :25/05/2015
Consultant Doctor :Dr. vinay kumar
OP No :13221
IP No :1969/15
Address : pavgada
Tumkur district
4

5. Pradhana Vedana
 C/o Difficulty to get up from sitting
position since 5 years.
 C/o Low backache , B/L Knee joint , Right
Ankle joint pain since 5 years.
 Forward Bending of spine since 4 years
5

6. Anubandha veadana
 Feeling Tired after walking for a
distance of ~50 mtr since 5 years
6

7. Vedana Vrittanta
Pt was apparently healthy before 5 years. He first noticed the feeling
of tiredness after walking for a few of ~50mtr distance, later he
noticed feeling of tiredness even without doing any work . In a span
of 5 months his Parents noticed that he was taking more time than
usual to reach home from school. They also noted that there was a
slight change in curvature of his spine , ie a mild backward bending.
There were no episodes of fall or impairment of memory after 2
months, he found it difficult to get up from sitting position i.e., he
was using arms to climb up the legs in attempting to get up from the
floor.
7

8. Along with that they noticed that there was change in his GAIT
i.e., he was walking on the toes on right side and on left he was
placing the foot completely on the ground with less balance.
There was no pain in muscles or muscle wasting was not seen no
complaints of speech,swallowing difficulty.They consulted Govt.
Hospital Tumkur for these complaints and there he was referred
to CCMB hospital. After investigations, he was prescribed
with medication ( details of which are not available) along with
physiotherapy and was referred to NIMHANS.
8

9. After few days he experienced pain in low back. The pain was
localized non-radiating, pulling type which got aggravated on climbing
stairs or standing for long time . After 5 months he also noticed B/L
knee joint pain and right ankle joint pain which also got aggravated
on walking & climbing stairs. His pre existing complaints of tiredness
& difficulty in getting up from sitting position got aggravated . He
didn’t have any complaints of breathlessness or difficulty in
swallowing. He was taken to NIMHANS on referral. At NIMHANS
further investigations were carried out and they were advised to go for
Ayurveda treatment. So he approached SKAMCH and RC for further
treatment.
9

10. Poorva vyadhi vruttanta
 Pt used to get occasional episodes of cold and fever on
seasonal change before the onset of chief complaints
 Pt had normal growth and development till 10years of
age.
 Milestones achieved at normal time.
10

11. Chikitsa vrittanta
 Vaccination were given periodically in time.
 Medications prescribed for the complaints details are
not available.
 He was advised to take nutritious food and regular
exercise.
11

12. Koutumbika vrittanta
 Grand father & grand mother – consagenous marriage
 Mother & father – consagenous marriage
1 child ( patient) delivered FTND
 No members in the family have similar complaints
12

13. Vayaktika Vrittanta
 Diet - Mixed, (Non-veg – once/week)
 Appetite - Moderate
 Sleep - Normal( 7-8 hrs/ day)
 Micturation - 4-5 times per day/night
 Bowel - once /day, clear evacuation
 Vyasana - milk 2 times/day
13

14. General Examination
 Built - Moderate
 Nourishment - under
 Pallor - Absent
 Icterus - Absent
 Cyanosis - Absent
 Clubbing - Absent
 Lymphadenopathy - Absent
 Edema - Absent
 Tongue - un coated
14

15.  Pulse - 72 BPM
 B.P - 120/80 mm of Hg
 Temp - 98.6° F
 Respiratory - 18 Times/min
 Height -145cm
 Weight - 35 kg
 BMI - 16.65
15

16. DASHAVIDHA PARIKSHA
1) प्रकृ ति: – Vata Pittaja
2) सारतः – Avara
3) संहनि – Madhyama
4) प्रमाणतः – Height - 146
Weight - 36 kgs.
5) सात्म्यि – Vyamishra satmya
(Katu, amla, madhura rasa satmya)
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17. 6) सत्मवि – Madhyama
7) आहर शक्ति - अभ्यवहरण शक्ति – madhyama
जरण शक्ति – madhyama
8) व्यायाम शक्ति – Avara
9) वयः – bala
10) ववकृ ति – Pravara
17

18. G.I. SYSTEM
Inspection:
 shape
 No distension
 Umbilicus- centrally placed inverted ,
 No visible peristalsis, no scars or discoloration
Palpation:
 Soft
 No Tenderness
 No organomegaly
SYSTEMIC EXAMINATION
18

19. Percussion:
• Dullness heard over right hypochondrium.
• Tympanic sound heard in the remaining quadrants of
the abdomen
Auscultation:
• Bowel sounds heard
19

20. Inspection
 Shape of chest - bilaterally symmetrical
 No use of accessory muscles for breathing
 No muscle wastage
 No scar
 Respiratory rate – 18 times/min
Palpation
Trachea - centrally placed
TVF – normal
20
RESPIRATORY SYSTEM

21. Auscultation
Normal vesicular breath sounds heard
 CARDIO VASCULAR SYSTEM
On auscultation; S1 S2 heard, No murmurs
21

22. CENTRAL NERVOUS SYSTEM
1)HMF
 Consciousness – Fully conscious
 Orientation to -time
-place Intact
-person
 Memory -immediate
-recent Intact
-remote
 Intelligence- good
 Hallucination & Delusion- Absent
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23.  Speech disturbance- absent
 Handedness-Right
2)Cranial Nerve Examination
 Olfactory- Smell sensation-intact
 Optic-a) Visual acuity
-b)Colour vision
-c)Visual field normal
-d)Light reflex
-e)Accomodation
23

24.  Occulomotor,Troclear & Abducent Nerve
-Eyeball movement-Possible in all directions
-Pupil-position
-shape
-size NAD
-symmetry
-Ptosis-Absent
 Trigeminal
Sensory-Touch, pain and pressure sensation- Intact
-corneal reflex-present
Motor-clenching of teeth -possible
- movement of jaw- possible24

25.  Facial
A)Forehead frowning -possible, equal in both sides
b)Eyebrow raising - possible, equal in both sides
c)Eye closure - possible, equal in both sides
d)Teeth showing -possible
e)Blowing of cheek - possible
f)Naso labial fold - no deviation
25

26.  Vestibulo-cochlear Rt Lt
-Rinne’s test- bone conduction present present
Air conduction present present
-Weber’s test- equal in both ears
 Glossopharyngeal and Vagus
Position of uvula- centrally placed
Taste sensation -intact
Gag reflex - normal
 Spinal accessory
Shrugging shoulder- equal power on both side
Neck movement -possible against resistance26

27.  Hypoglossal
Protrusion of tongue -complete protrusion possible
Tongue movements -normal movements seen
27

28. Motor System
1)Involuntary movements – Absent
2)Muscle bulk – Rt Lt
Biceps 11 inch 11 inch
forearm 8 inch 8 inch
mid thigh 15 inch 15 inch
calf muscles 10 inch 10 incm
3)Muscle tone
Right hand - hypotonia
Left hand - hypotonia
Right leg - hypotonia
Left leg - hypotonia28

29. 4)Muscle strength Rt Lt
 a)Elbow -flexion 5/5 5/5
-extension 4/5 5/5
 b)Wrist -flexion 5/5 5/5
-extension 4/5 5/5
 c) Finger abduction 4/5 5/5
 d)Opposition of thumb 5/5 5/5
 e) Test of grip 5/5 5/5
29

30. Rt Lt
Lower limb
Hip -adduction 4/5 3/5
-abduction 4/5 3/5
-flexion 4/5 3/5
-extension 4/5 3/5
Knee -flexion 4 /5 3/5
-extension 4/5 3/5
Ankle -dorsiflexion 5/5 5/5
-plantarflexion 5/5 5/5
30

31. 5)Co-ordination RT LT
 Sensory –
sterognosis - present present
Point discrimination – UL present present
LL present present
Graphestesia present present
 Motor
UL-Finger nose test
finger nose finger Co-ordination present
LL-Knee heel test
31

32. Rapid alternating RT LT
UL - Pronation & supination present present
Thigh slapping test present present
LL - knee ankle test diminished diminished
 Romberg test - negative
 Tandon walking - difficult limb is short
32

33. 6)Gait- waddling gait / limping gait
7)Reflexes
Superficial
a)Corneal -present
b)Abdominal - Absent
33

34. Rt Lt
Deep
a)Biceps jerk Diminished Diminished
b)Triceps jerk Diminished Diminished
c)Knee jerk Diminished Diminished
d)Ankle jerk Diminished Diminished
e)Clonus-patella Diminished Diminished
-ankle Diminished Diminished
Babinski reflex - absent absent
Abdominal reflex- absent
34

35. 3)Cortical
a)Tactile localization -present
b)Tactile discrimination-present
c)Stereognosis-present
d)Graphesthesia-present
35

36. Locomotory examination
 GAIT – waddling gait
Gowers sign - positive
 Spine –
Inspection - lordotic spine
no wastage of muscle, no external
growth
absence of scoliosis, kyphosis ,no redness
no spina bifida
Palpation - tenderness @ L3-L4
no stiffness ,no warmth.
36

37. 37

38. Range of movement - forward bending – not restricted
backward bending - not restricted
left lateral - not restricted
right lateral – not restricted
Trendelenburg test - positive left limb
Schobers test – negative
SLR- Active & passive –negative
femoral nerve stretch – negative
38

39. VYAVACHEDAKA NIDANA
PANGU
KHANJA
SNAYU GATA VATA
MAMSA KSHAYA
ASTHI MAJJA GATA VATA
MAMSA MEDO GATA VATA
ANUKTA VATA VYADHI
39

40. 40
MAMSA MEDO GATA VATA
 Guruvangata
 Ruk
 Shramitam - seen
 Danda mushtihatam
 Tudhyate atyarta

41. 41
ASTHI MAJJA GATA VATA
 Mamsa bala kshaya - seen
 Bhedo asthi parvann Sandhi shoola -seen
 Aswapna
 Santataa ruk

42. 42
SNAYU GATA VATA
 Bahya / abyantara aayama
 Khalli
 Kubjya
 Affects sarvanga or ekanga

43. 43
MAMSA KSHAYA
 Aksha glani
 Ganda sphik shushkatha
 Sandhi vedana

44. 44
KHANJA
 when prakupta vata present in kati affects khandara of
one limb is khanja
PANGU
when prakupta vata present in kati affects khandara of both
limbs is khanja

45. 45
ANUKTHA VATA VYADHI
The diseases should be diagnosed according to the
clinical features manifesting at the various site of
lesion .

46. DIFFERENTIAL DIAGNOSIS
 DUCHENNE MUSCULAR DYSTROPHY
 LIMB GIRDLE MUSCULAR DYSTROPHY
 SPINO CEREBELLAR ATAXIA
 SPINAL MUSCULAR ATROPHY
 GB SYNDROME
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47. 47
GULIAN - BARRE SYNDROME
 It is an acute ,demyleniating ,predominantly motor
polyradiculopathy .
 Maximum weakness usually occurs between 10-14 days
after the onset of the neuropathy.
 First symptoms are usually sensory with distal
paraesthesia,numbness and some time pain.
 Cranial nerve involvement occurs in 30-40% of patients
with bi-lateral facial weakness predisposes to aspiration
pneumonia.
 predisposing factors history of viral illness ,often an upper
respiratory infection.

48. 48
SPINO CEREBELLAR -ATAXIA
 Spino cerebellar ataxia (SCA) is one of a group of genetic
disorders characterized by slowly progressive in coordination
of gait and is often associated with poor coordination of hands,
speech, and eye movements.
 As with other forms of ataxia, SCA frequently results
in atrophy of the cerebellum, loss of fine coordination
of muscle movements leading to unsteady and clumsy motion,
and other symptoms. gait impairment ,unclear speech ,visual
blurring due to nystagmus ,hand in coordination, and tremor
with slowness of voluntary movement.
 The symptoms of an ataxia vary with the specific type and with
the individual patient. In general, a person with ataxia retains
full mental capacity but progressively loses physical control.

49. 49
SPINAL MUSCULAR ATROPHY
 Muscle atrophy is defined as a decrease in the mass of
the muscle.
 Symptoms include back pain, walking problems, ham string
 a rigid spine and even heart failure again, the heart is a muscle
and should it atrophy.
 Increased creatine kinase levels .
 It can be a partial or complete wasting away of muscle, and is
most commonly experienced when persons suffer temporary
disabling circumstances such as being restricted in movement
and/or confined to bed as when hospitalized.
 When a muscle atrophies, this leads to muscle weakness, since
the ability to exert force is related to mass.

50. 50
 It is the most common childhood i.e, during the toddler years,
sometimes soon after an affected child begins to walk.
 Progressive weakness and muscle wasting (a decrease in muscle
strength and size) caused by degenerating muscle fibers begins in
the upper legs and pelvis before spreading into the upper arms.
 loss of some reflexes, a waddling gait, frequent falls and
clumsiness (especially when running),difficulty when rising from a
sitting or lying position or when climbing stairs, changes to overall
posture, impaired breathing, lung weakness, and cardiomyopathy.
 As the disease progresses, the muscles in the diaphragm that assist
in breathing and coughing may weaken.
DUCHENNE MUSCULAR DYSTROPHY

51. 51
 Begin in childhood or the teenage years, and show dramatically
increased levels of serum creatine kinase.
 In general, the earlier the clinical signs appear, the more rapid the
rate of disease progression Limbgirdle
 Weakness is typically noticed first around the hips before
spreading to the shoulders, legs, and neck. Individuals develop a
waddling gait and have difficulty when rising from chairs,
climbing stairs, or carrying heavy objects. They fall frequently
and are unable to run. Contractures at the elbows and knees are
rare but individuals may develop contractures in the back
muscles, which gives them the appearance of a rigid spine.
 Proximal reflexes (closest to the center of the body) are often
impaired. Some individuals also experience cardiac and
respiratory complications, depending in part on the specific
subtype.
LIMB GIRDLE

52. 52

53.  25 April 2013
RBS 92mg/dl
Varia tests
LDH acc IFCC 265 units/ltr normal -135
 27 April 2013
CPK (total)-serum 260IU/L Normal – Male -29-398
 29 April 2013
ECG normal valves and chambers
normal bi-ventricular function
no obvious shunt lesion/PDA/COARCTATION/
aorta/RVOT OBSTRUCTION
INVESTIGATIONS
53

54.  3 may 2013 in NIMHANS
Biceps muscle histopathology
Impression: mild neurogenic atrophy .
no evidence of features to suggest muscular dystrophy
54

55.  17 may 2013
IN CCMB ( Centre for cellular and molecular biology)
analysis of the genomic DNA shows presence of bands
representing axon 7&8 of SMN 1,suggesting that
deletions in these regions of SMN 1 are not responsible
for disease however , a combination of heterozygous SMN
1 deletion with an atypical mutation such as a point
mutation or 2 atypical mutations in the SMN 1 gene is not
ruled out.
55

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65. 65

66. VYADHI VINISCHAYA
 Spinal Muscular Atrophy
 Bheeja bagha avyava dushti
 mamsa kshaya?
 pangu
66

67. SAMPRAPTI GHATAKA
 Dosha : vatacpradhana Kapha pitha.
 Dushya : Rasa, Mamsa, Meda,Asthi .
 Srotas : Rasavaha, Asthivaha.mamsavaha
 Sroto dusti : Sanga, Vimargamana.
 Agni : Jatharagni,dhatvagni.
 Ama :Jatharagni mandhya janya ama.
 Udbhava sthana : pakvashaya.
 Adhistana : Sarva shareera
 Vyakta sthana : Sandhi,asthi,mamsa
 Roga marga : abhyantara,madhyama,bahya
 Vyadhi Svabhava : Chirakari.
 Sadhya asadhyata : asadhya.
67

68. Nidana panchaka
NIDANA : beeja bhaga avayava dushti
POORVAROOPA - avyaktha
ROOPA
 Kati shoola
 Chesta hani
 Bahirayama
 Alasya
 Pangu
 Janu sandhi shula
Upashaya : rest, abhyanga
 Anupsaya : ati gamana 68

69. SAMPRAPTHI
69
Nidana ( beeja dosha dushti)
Vatapradhana tridosha prakopa
Avarana in
Mamsavaha srotas
Asthi Majja vaha srotas
Mamsa bala kshaya
Pangu, Chesta hani, Bahirayama,Alsaya ,
Katishula,
Janu sandhi shula

70. Treatment given
 Agni lepa 7 days
 Taladhara with vacha choorna + curd 7 days
 Rajayapana basti – kala basti
 Ekanga veera rasa 1tid
 Cap Palsineuron 1 tid
 Bala arishta 3tsp tid
 Sahacharadi kashaya 2tsp + 4tsp water BD B/F
 Sahacharadi taila 101 avaratika 20 drops bd
70

71.  Sarvanga Abhyanga with dhanvantaram taila + pinda
taila +karpasahastyadi taila followed by SSPS
 Physiotherapy – stretching , Balancing .
71

72. PROPOSED LINE OF
TREATMENT
72
 SHAMANA
1.Maha yog raja guggulu 1tid
2.Agni tundi vati 1tid with madhu
3.Aswagandha choorna 1/4 tsp
4.Shunti choorna 1/4 tsp ushna jala
5.Dashamoola arishta 1tsp with jala with ushna jala

73. 73
SHODHANA
 Sarvanga choorna pinda sweda with triphala choorna
 Sadyo Virechana with hareetakyadi yoga 15 gm
 Sarvanga abhyanag with maha masha taila + parinetha
keri ksheeradi taila followed by sarvanga pariseka
with narayana taila.
 Nasya with anutaila -8 drops
 Matra basti with nimbha amrutha eranda taila 30ml
 Rasayana
Aja mamsa rasayana - 1tsp with milk
kapikachu choorna