CASE 12

A Boy/ 7 y.o Come brought by his parents To Pmr Outpatient Clinic With
Complaint Easy To Fall While Walking.

I. Identity
Name : Ch. N
Sex : Male
Age : 7 years old
Address : Gresik
Occupation: Elementary school
Religion: Moslem
Ethnic : Javanese

II. Anamnesis
Chief Complaint : sering terjatuh saat berjalan
History of present illness (Heteroanamnesis) :
Patient can not walk normally since 1 year ago. Mother complained that he can not walk
properly and keeps falling if he tries to walk faster. The weakness is symetrical and it is
getting worse. He can not climb stairs by himself and now he has difficulty when he wants to
stand up and hop. Mother also noticed that her son has difficulty in raising both arms above
his head and he has a bad posture while standing. Right now he can walk for 100m without
feeling fatigue or shortness of breath. There are no complaints of numbness/tingling
sensation, bowel and bladder, and cognitive problem. He can speak with fluent language in
daily life and no difficulties in eating and drinking.

History of functional ability:

He can do activity of daily living independently, except to go school and go upstairs, he is
accompanied by his mother. He is in 1st grade elementary school, and has difficulty to climb
the stairs to get to his classroom on the 2nd floor and sports such as throwing a ball.

History of past illness:

There is no history of shortness of breath, trauma, tumor, or seizure.
 Childhood History:
• Prenatal :patient is the 3rdchild, mother pregnant at 28th y.o, routinely controlled to
midwife, never had serious illness
• Perinatal : aterm, normal birth by midwife at home, spontaneous crying, no cyanosis,
BBW: 3000gr.
• Postnatal : complete immunization, no serious illness.

Family history :
• The father and brother of his mother suffered from similar disease
• Patient has 1 healthy younger sister (2y.o).

History of Psycho-Social Economy:

Patient lives with his parents and his younger sister. His father is a teacher and his mother
is a housewife. They have medical insurance (BPJS).
Patient used to sleep in the second floor in his house but now he sleep in the first floor. The
toilet is in sitting position but he still need assistance when he goes to toilet.

Milestone
• Head up : 2 m.o
• Rolling : 3 m.o
• Sitting : 6 m.o
• Crawling : 7 m.o
• Standing : 11 m.o
• Walking : 13 mo
• Running : 16 mo

III. Physical Examination

A. General Status
• Compos mentis, independent ambulation, waddling and tip toe gait, hyperlordotic, scoliotic
posture, and right handed dominant
• Vital sign :BP 110/70 mmHg; HR: 88x/minute; RR: 20x/minute; temperature : 36,70C
• Body Weight : 20 kg; Body Height: 140 cm BMI: 10,2 kg/m2 (underweight)
 System Review
• Head : No anemia, jaundice, cyanosis, & dyspnea
• Neck : within normal limit
• Thorax : Heart : S1-S2 : single, regular, murmur -, gallops –
Lung : vesicular +/+, wheezing -/-, ronchi -/-
• Abdomen : Supple, normal bowel sound, unpalpable liver / spleen
• Extremities : no edema, warm and red acral

B. Head/Neck/Trunk
Look : lumbar hyperlordotic and scoliotic, Right thoracolumbar convex C-curve posture
Feel: no abnormalities found
Movement : no abnormalities found, flexible spine
ROM and MMT :
Neck Flexion F (0 – 45º) 5
Extension F (0 – 45º) 5
Lateral Flexion F / F (0 – 45º) 5/5
Rotation F / F (0 – 60º) 5/5
Trunk Flexion F (0 – 80º) 5
Extension F (0 – 30º) 5
Lateral Flexion F / F (0 – 35º) 5/5
Rotation F / F (0 – 45º) 5/5

Special test:
Neuromuscular: no abnormalities found

C. Upper Extremities Region

Look: no abnormalities found
Feel: rubbery +/+, pain -, warmth –
Movement: difficulty in moving arm above head
ROM and MMT:
Shoulder Flexion F / F (0 – 180º) 4/4
Extension F / F (0 – 80º) 3/3
Abduction F / F (0 – 180º) 3/3
Adduction F / F (0 – 45º) 4/4
Int-Rotation F / F (0 – 55º) 4/4
Ext-Rotation F / F (0 – 45º) 3/3
 Elbow Flexion F/F (0– 150º) 4/4
Extension F/F (150 – 0º) 4/4
Pronation F / F (0 – 80º) 4/4
Supination F / F (0 – 80º) 4/4
Wrist Flexion F / F (0 – 80º) 5/5
Extension F / F (0 – 70 º) 5/5
Radial deviation F / F (0 – 20º) 5/5
Ulnar deviation F / F (0 – 30º) 5/5
Fingers Flexion
MCP F / F (0 – 90º) 5/5
PIP F / F (0 – 100º) 5/5
DIP F / F (0 – 90º) 5/5
Extension
MCP F / F (0 – 45º) 5/5
Abduction F / F (0 – 20º) 5/5
Adduction F / F (20 – 0º) 5/5
Thumb Flexion
MCP F / F (0 – 50º) 5/5
IP F / F (0 – 90º) 5/5
Extension
MCP F / F (50 – 0º) 5/5
IP F / F (90 – 0º) 5/5
Abduction F / F (0 – 90º) 5/5
Adduction F / F (0 – 50º) 5/5
Opposition F / F (50 – 0º)
Special test: no abnormalities found
Neuromuscular: no abnormalities found

D. Lower Extremities Region

Look: hypertrophy of calf muscles
Feel: pseudohypertrophy +/+ of gastrosoleus , pain -, warmth –
Movement: no abnormalities found
ROM and MMT:
Hip Flexion F / F (0 – 125º) 4/4
Extension F / F (0 – 30º) 3/3
Abduction F / F (0 – 45º) 3/3
Adduction F / F (0 – 20º) 4/4
Int-Rotation F / F (0 – 45º) 4/4
Ext-Rotation F / F (0 – 45º) 4/4
Knee Flexion F/F 4/4
Extension F/F 4/4
Ankle Dorsoflexion F/F (0 – 20º) 4/4
Plantarflexion F/F (0 – 50º) 4/4
Eversion F/F(0 – 35º) 4/4
Inversion F/F(0 – 15º) 5/5
 Toes Flexion F / F (0 – 30º) 5/5
Extension F / F (0 – 80º) 5/5
Big Toe Flexion F / F (0 – 25º) 5/5
Extension F / F (0 – 80º) 5/5

Special test: Gower’s sign +, Thomas test -/- Ober’s test -/-
Silferskiold test -/-
Neuromuscular: no abnormalities found

Functional examination:
Posture: lumbar hyperlordotic and scoliotic, right thoracolumbar convex C-curve posture
Gait: Swaddling gait
6 min walk test : 259m
Sit to stand : 5 minutes

Barthel Index:
Activity Score
Feeding 10
Bathing 5
Grooming 5
Dressing 10
Bowels 10
Bladder 10
Toilet use 5
Transfers 10
Mobility 10
Stairs 0
TOTAL 75

Broke scale for upper extremity

1 Starting with arms at the sides, the patient can abduct the arms in a full
circle until they touch above the head
2 Can raise arms above head only by flexing the elbow (shortening the
circumference of the
movement) or using accessory muscles
3 Cannot raise hands above head, but can raise an 8-oz glass of water to the
mouth
4 Can raise hands to the mouth, but cannot raise an 8-oz glass of water to
 the mouth
5 Cannot raise hands to the mouth, but can use hands to hold a pen or pick
up pennies from the table
6 Cannot raise hands to the mouth and has no useful function of hands
Brooke Scale : 2

Vignos scale for lower extremity

1 Walks and climbs stairs without assistance
2 Walks and climbs stair with aid of railing
3 Walks and climbs stairs slowly with aid of railing (over 25 seconds for 8
standard steps)
4 Walks unassisted and rises from chair but cannot climb stairs
5 Walks unassisted but cannot rise from chair or climb stairs
6 Walks only with assistance or walks independently with long leg braces
7 Walks in long leg braces but requires assistance for balance
8 Stands in long leg braces but unable to walk even with assistance
9 Is in a wheelchair
10 Is confi ned to a bed
Vignoss Scale : 3

Respiratory function
• Chest Expansion T2 : 2 cm T4 : 2,5 cm T6 : 3 cm
• Count Test : 20
Balance : Pediatric Balance Scale score: 25
Hand function : Grasp: Functional/Functional
Hook: Functional/Functional
Pinch: Functional/Functional
Spherical: Functional/Functional
Cylindrical: Functional/Functional
Lateral tip: Functional/Functional
Communication: Eye contact: good, Speech: good
Eating and drinking: Eat and drink safe and efficient
IV. Supporting Examination
Laboratory
Nov 4th 2019 CK :5657 U/L ( N: < 170 U/L)
Feb 20th 2020 Hb 12.7 g/dl, Leu 7.610/uL, plt 453.000/uL, SGOT 38 U/L, SGPT 51 U/L,
HbsAg NR
EMG-NCV (at PMR department)
Nov 4th2019: impression: the current electrodiagnostic findings are compatible with
muscle disease.

V. Functional Assemsment
Body Functions
muscle power muscle power Weakness proksimal
function function of all limb upper and lower
limbs extremity D et S
Gait pattern - Waddling gait
functions
Muscle function - Calf
other specified and pseudohypertrophy
unspecified D/S
Neuromusculoskelet - Hyperlordotic and
al and movement- scoliotic Posture
related function,
other specified
General metabolic - Myopathy,
function, unspecified underweight
Body Structures
Structure of upper shoulder region Deltoid and infraspinatus
extremity weakness D/S
Structure of upper upper arm Weakness upper arm
extremity region muscle D/S
Structure of lower Thigh region Weakness thigh muscle
extremity D/S
Structure of lower Lower leg Weakness knee ekstensor
extremity region D/S
Structure of lower Ankle and foot Weakness ankle
extremity muscle dorsiflexor and eversion
D et S
Structure of trunk, - Hyperlordotic lumbal and
other specified scoliotic posture

Activities and participation

Transferring while sitting Gower sign
oneself
 Walking in different Climbing stairs
surface

School education - Play in school, sports

Environment Factors
Education and Unspecified Need help to climb stairs
training services, and toileting
systems and policies

VI. DIAGNOSIS
Clinical Diagnosis : Locomotor disturbance e.c. Duchenne Muscular Dystrophy
Anatomy Location Diagnosis: Musculoskeletal system
Etiology Diagnosis: X-linked recessive, gene Xp21