Duchenne muscular dystrophy

Definition:it is one of genetic determined myopathy that are characterized by steady progressive degeneration and weakness of the muscle.it is x linked disease and is insidious in its onset.

clinical presentation:

1-Delayed motor development.

2-Walking is clumsy and there is frequent falling.

3-Walking with wide BOS with waddling and lurching gait.

4-Walking on tips of foot.and relactance of walking and running.

5-As weakness increase , gower sign appear: as child climb him self for raising due to weakness of the back and abdominal muscle, calf, iliopsoas,iliotibial band and knee flexors.

6-Using wheel chair for ambulation.

7- Affection of respiration.

8-Positional deformity as scoliosis.

7-Obesity due to lack of activity and mobility and sitting on wheel chair.

By progression:

1- there is shortening in specific muscles.

2- Weakness and deposition of fibrous tissue.

Shortening of specific muscle help sitting before weakness but he can not maintain the upright posture.

Management: 

Goal: maintainance of child functional and ambulant as much as possible.

Evaluation:

1- Functional ability assessment:what he can do from his ADL activity according to his age:

At 6-7 years : he can walk and run.

At 9-10 years:child can walk with assisstance due to deterioration of the muscles.

Examples for functional assessment.

For upper limb: 1- bilateral abduction and elevation of both arms or one.

                            2- raise hand just above head.

                            3- mouthing only.

For lower limb:1-walking and ascending stairs without assistance.

                          2 -walking and ascending stairs mild assistance.

                          3-walking and ascending stairs with moderate assistance.

                          4-use wheel chair for mobility.

                          5-just getting off or raising from wheel chair.

2-Muscle power assessment: manual muscle test,we do group muscle test to avoid exhuation,

it is applied for the following muscles:1-upper and lower fibers of trapezius.

                                                                2- serratus anterior.

                                                                3- pectoralis .

                                                                4-abdominal.

                                                                5-gluteus maximus and medius.

                                                                6- rhomboids.

                                                                7-triceps.

                                                                8-iliopsoas.

                                                                9-quadriceps.

                                                               10-tibialis anterior.

                                                                11-latissimus dorsi. 

3- ROM assessment: active and passive range of motion.

limited active range of motion refers to muscle weakness.but if there is limitation in both active and passive range this refers to muscle tightness.

Prolonged sitting on wheel chair leads to limitation of range of hip extension ,knee extension,ankle dorsiflexion and elbow extension.

4- Flexability assessment: is used for test for tight muscles as

a- Iliopsoas muscle: thomas test.

b-Ilio tibial band: obar test.

c- Hamstring and calf muscles.

5- Muscle tone assesment:we can use gower test :patient sitting and therapist stand behind him and hold child shoulder from under axilla then elevate shoulder. there is increase in the upward displacement with sudden release , the shoulder drop sudden not gradually.

 6-Gait and wheel chair assessment:

a- By observation: we can see pattern of walking as walking on tip of toes with wide BOS.

b-wheel chair: if he can do his activities as transfere and the distance that patient can travel and the amount of energy expenditure.
7-Pulmonary function assessment: to evaluate vital capacity and oxygen consumption.
Respiratory failure is the common cuase of deathdue to weakness of the respiratory muscles and accumulation of secretions which lead to infection.
treatment:
1- To prevent deformity:a- ROM exercise for all jointsin the early stage     

                                           b- Stretching exercise for hamstring and calf muscles.

                                           c- Application of braces as AFO and KAFO.

                                            d- Strengthening exercise .

2- To maintain functional ability: this can be achieved through proper exercises  which must be:

                                                    a- functional exercise.

                                                    b- aerobic exercise.

                                                    c- exercise for large group of muscles.

                                                    d- child must talk rest to avoid fatigue.

3- Family support: parents are depressed and feel guilt and furstration so we must help them to accept this problem and avoid giving false hope for them .

4- Pain control: proper exercise help reducing pain through prevention of deformity and delay appearance of complication.

For child who sits on wheel chair must change his position periodically and change  position of the propelling hand every 6months.

For child who is bed ridden ,we must use air matress to avoid development of pressure ulcers also we must do respiratory care in the form of breathing exercise and posture drainage.

5- To control obesity: it develops as child in put is more than the out put and decrease his activity level .so we advice for proper diet and exercise program and avoiding food with high caloric value.                                        

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Congenital hip dislocation

Incidence: it occurs by 2 or 3 children per 1000 live births. it is common in female than male by ratio 5:1.

Etiology: there is many factors that may lead to this congenital anomaly:

1) Ligamentous laxity around hip joint result from familial mesenchymal tissue disorders and cartilagenous limbus which form the rim of the acetabulum  that is inverted inside the acetabulum.

2) The head of the femur is flattened.

3) Breech presentation during delivery.

4)Shallowing of the acetabulum.

5)Sever hypotonia with generalized joint laxity.

The dislocated femoral head is directed superior and posterior to the acetabulum leading to :

1)Elongation of the ligamentum teres .

2)Contraction of psoas, adductor,and hamstring muscles.

3) Separation of the gluetus medius from the ilium.

4) Stretching of the joint capsule.

Clinical presentation:

1) Skin fold on the gluteal and adductor region .

2) Limitation of passive hip abduction.

3) Old child who begins to ambulate show positive trendelenburg sign.

4) Child with bilateral CHD has waddling gait.

Diagnosis:

1) Plain X- ray:we can see shallowing of the acetabulum and shape of the femoral head.

2) CT ultrasonic : is used for intra utrine investigation.

Special tests for hip instability in infants.

1) The ortolani test: chid lies supine  with his hip and knee are flexed.

      Grasp: the therapist hold legs at the femoral condyles with his index and middle finger on the lateral aspect of the thigh on the greater trochanter.

both legs are rotated through full arcs of external rotation and abduction.

the normal hip can be brought into 90 degree of abduction but the dislocated hip blocks usually at 30 to 40 degee of abduction and external rotation.

2)Piston test: child lies supine with hip flexed 90 degree and adducted and the knee is flexed . the therapist grasp thigh  with the opposite hand and the infant pelvis is supported with the other hand then move thigh up and down through its axis.

Normally , the hip is felt stable without telescoping of the limb.

If there is dislocation , the axial compression cuases the leg to be short so that telescoping is obvious.

3)Barlow's test: child is supine with his hips and knees are flexed.

the therapist grasp the normal side of the pelvis  with the opposite hand to this side and the examined hip is held between tip of middle and thumb .

the hip is adducted  if it is dislocated it can be pushed out of the back of the joint and reduced by pressure on the greater trochanters.

treatment

1) Reduction of the joint with minimal soft tissue injury .the child is put in quadriped position and use splint that keep hip in abduction . it may be one of the following:

a- Traction :weight traction can be used to reduce dislocation . the hip is moved gradually in wide abduction  in either extension or flexion.

b- Splinting:

1-Frejka pillow.                                                              2-Von Rosen splint.

3-Denis brown hip splint.                                            4-Pavlik harness.

5-Plaster hip spica.

2)  physiotherapy:

1- Mobilization in warm water is very useful.

2- weight bearing activity as standing and walking.

3- Walking using crutch is better than using walker as it allow active hip and knee flexion.

4- Using tread mill for strengthening and endurance.

Surgical management:

1-Closed or open reduction may be done with or without musclotenotomies.the hips are placed in abduction and immobilized with plaster which is maintained for 9 months depending on child age and type of surgery .

2- Pelvic osteotomy : is used for children between 18 months and 10 years of age . they are immobilized in plaster hip spica for up to 8 weeks.

3- Steel triple osteotomy : is done for children with age of 12 years  and older child . they require 120 weeks for immobilization in hip spica

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spina bifida

 Definition.

It is one of the congenital anomalies in which there is developmental defect in the spinal column

due to failure of fusion of the vertebral arches leading to protrusion of the spinal cord or its membranes .

Brief pathology.

During the intrauterine life, the neural plate is formed at the eighteenth day of the gestation, this neural plate divide into neural tube and neural arch. The neural tube forms the central nervous system (brain and spinal cord). The neural arch forms the peripheral nervous system. This defect appear within first few weeks of gestation, as the neural plate has  cranial part which close at the day of 26 of gestational life  ,if this closure not occur this will lead to encephalomyopathy which lead to death. The caudal part close at the day of 28 of the gestation, spina bifida result from failure of closure of this part.but wether the cuase is genetic or environmental is unknown.

Types of Spina bifida

1- Spina bifida oculta: there is defect only in the neural arch without neural tissue involvement, there is skin changes and hairy patches.

 2-Spina bifida cystica:it include two types:

a)Meningocele: the vertebral arch un fused , there is  herniation of the meninges , part of the cord or nerve roots may present in sac but conduct impulse normally.

b)Myelomeningocele: sac contain neural elements  that protrude through the spinal defect. The overlying skin is thin andleaks of spinal fluid. There may be secondary infection,neurological and orthopedic problems and hydrocephalus               

clinical picture : it will differ according to the affected level . the most common affected is lumbosacral region. it may include:

1- Fflaccide paralysis.

2- Muscle weakness and wasting.

3- Decreased or absent tendon reflexes.

4- Decreased or absent extroceptive and propioceptive sensation.

5-Rectal and bladder incontinance.

6-Hydrocephalus.

7-Sever vasomotor changes.

pt examination.

1) By sight:we can see on the back of the patient  one or more of the following:

                       a)Tuft of hair.

                        b)Subcutaneous lipoma.

                       c)Localized sac.

                       d)Increased head size.

                           e)Deformity of the lower limb .                                                                           

2)By palpation:a)bony defect

                          b)Subcutaneous lipoma.

                          c) Loss of sensation.

                           d)Muscle bulk.

3)Measurement and tests:

1-Tape measurement:a) round measurement for head circumferance and muscle contour.

                                      b)Long measurement for lower limb.

 2-Range of motion: child with age less than 3 years can not obey to command so we use test for tightness as indicator for limited range of motion.

3-Muscle test: we can do functional muscle test with the following grades:

    a-Functional : child can performs the task completely.

    b-Sub functional: it start from inability to do task completely to the ability to do flicker contraction in the muscle.

   c-Non functional: inability to perform the task.

Exercise for the upper limb:children with spina bifida need to compensate motor control of their legs and trunk. they use their arms as assistance for daily living activities:a- transferring from seat to bed and toilet.

b-Helping children without trunk stability to sit.

c- Standing up from the floor or from wheel chair.So, exercises to strengthen the arms are important part of the treatment as press up with pillows under the knees and feets.

poor sitting balance:many children with spina bifida have poor sitting balance and there is many factors lead to this problem as 1-Weak trunk muscles.

                                                     2- Paralyzed lower limb.

                                                     3- Lack of sensation.

We can deal with this problem through: 

1-Strengthening exercises for back extensors and balance exercise as sitting astride the legs of the therapist or stride aroll.

2- Special seats or wheel chairs are molded to provide  adequate support  for the trunk .
Pt modalities can be used in the management of the symptoms that result from spina bifida

1- In patient with partial paralysis an extensive program of physical application should be applied aiming to improve muscle power and to increase physical abilities of the patient.
2- Electric appliances may be used to relieve pain, induce relaxation or to improve function.
3- Passive movement and passive stretch should be used to prevent and correct contracture and deformities .
4- Active exercise to prevent muscle imbalance and to keep the gained range  during passive manibulation.
5-Hydrotherapy is very effective when skin is intact.
6-Gait training by using braces.
Orthoses:
Many patients who have lower lumber lesion and in whom there is power 5 of the quadriceps and 4 of the medial hamstring have the potential to walk  with ankle / foot orthoses with or without external aids. the factors affecting ambulatory status are related expenditure and control of obesity. two orthoses have been introduced reciprocating gait pattern and to enable standing.these are reciprocating gait orthoses and hip guidance orthoses . apre-requisite fitting such an orthoses is that there is no more than 20 degree flexion  in the hip, the knee and the foot can be rendered in plantigrade position.

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Toe Walking: Implications for Therapy

Toe walking is commonly observed in all children up to 2 years of age as they

learn to navigate, explore and manage their environment in a dynamic upright position.

When toe walking is either observed consistently or beyond the age of 2-3 years, it could

implicate a neurological illness, a muscular illness, a congenital heel cord contracture

(tightness) or a sensory processing deficit.

Children who walk on their toes either have existing muscle tightness or develop

tightness/contractures in their ankle muscles. This tightness could lead to serious injury.

Toe walking changes the position of each joint in the legs (ankles, knees, hips) and could

also lead to additional orthopedic deformity. In order to perform motor skills

appropriately, children require a balance of the muscles that flex and extend their bodies.

This provides them with a stable base of support for movement. Children who toe walk

often develop an imbalance in their flexion and extension muscles and therefore may

have poor motor control, balance and coordination. This can also potentially impact

further higher level motor skill development. It is essential to determine the underlying

cause(s) for toe walking in order to implement the appropriate treatment.

Three of the less common, but clearly understood causes of pediatric toe walking

are congenital heel cord tightness, central nervous system damage or paralytic muscle

disease. In the first case, the toe walking is caused by inherently tight ankle muscles. In

the second case, toe walking is caused by spastic gastrocnemius and soleus (heel cord)

muscles in a child’s calf that result from an injury to the brain or the part of the spinal

cord that contains fibers from the motor cortex in the brain. Infants and young children

with an injury to the central nervous system by either a lack of oxygen or bleeding in the

brain are diagnosed with cerebral palsy. Depending on the extent and nature of the injury,

these children will end up with spasticity in their antigravity muscles, including the

muscles that plantar flex the foot (point the toes downward). This results in a toe walking

gait.

Children with Duchene’s muscular dystrophy also have the tendency to walk on

their toes. This results from the pattern of muscle fibrosis that occurs in the children’s

lower extremities. As their muscles become fibrotic, there develops an imbalance of

muscle strength at the knee and ankle. The children lose strength in their quadriceps

femoris muscles which makes it harder for them to keep their knees straight. When they

stand on their toes, it makes it easier to do so. Also, the strength of the muscles around

the ankles becomes disproportionate, and as a result the relatively stronger plantar flexors

cause the children to go up on their toes.

Finally, the majority of children who walk on their toes are said to have what is

termed in the medical community as “habitual” toe walking, or idiopathic (def. having no

known cause) toe walking. This term does not implicate a disease or dysfunction

underlying the atypical gait. There are a small number of children who habitually walk on

their toes and have no other significant deficits. These children will often develop a

typical heel-toe gait with verbal instruction and reminding to walk with their feet flat.

However, habitual toe walking is often related to a vestibular-visual dysfunction.

Children with sensory processing disorders and autism are often observed walking on

their toes.

Toe has been qualitatively linked to a vestibular deficit alone in some children. In this

situation, a rigorous vestibular program alone can help a child walk with a typical heel-

toe gait. The vestibular mechanism in the inner ear receives information from sensory

receptors in different parts of the body to gain an accurate picture of the child’s position

in space. It receives information from the eyes, neck and shoulders, fingertips and palms,

jaw muscles, the front part of the tongue, and the soles of the feet. Children with poor

vestibular processing are often observed running their hands along the walls, chairs, etc.

in an effort to increase the information being sent to the vestibular system. In a similar

effort, these children will also toe walk. Theoretically, this increases the child’s ability to

perceive where they are in space.

 A number of medical professionals attribute toe walking to possibly either a vestibular

dysfunction or a visual-vestibular dysfunction. There is a great deal of qualitative research

in which children have undergone prism work with a developmental optometrist and

subsequently stopped toe walking. It has been shown that children can have an anterior

visual shift in midline in which the child perceives the center of their body to be more

forward in space than it actually is. From that standpoint, it can be theorized that a child

may perceive that the floor is sloping downward and so the child will walk on their toes

to “keep from falling forward.” Additionally, a study entitled “When is Vestibular

Information Important during Walking?” in The Journal of Neurophysiology (April 2004)

was able to conclude that changes were noted in foot placement during typical heel-toe

gait when vestibular stimulation was administered. The study states that (appropriate)

walking is clearly dependent on visual, vestibular and somatosensory (light and deep

touch) information together.

It is essential that a child receive a thorough neuromuscular examination to assess a

potential underlying cause. This will enable a child to receive appropriate treatment for

their atypical gait, and ensure that the child does not have additional impairments

(habitual toe walking has also been linked to language delays often not picked up until

later in the child’s development). Depending on the cause, appropriate treatment may

include physical therapy, occupational therapy, and possible intervention by a pediatric

orthopedist and/or orthotist.  Therapy will address muscle tightness, weakness, muscle

imbalances, the need for orthotic intervention, and deficits in sensory processing, balance

and coordination. If you have any further questions, or would like to arrange an

evaluation, please contact us.

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Torticollis: Implications for Physical Therapy

Torticollis is a condition in which a baby’s neck muscles are tight, weak, or a

combination of both.  Babies with torticollis often have poor head control and delayed

gross motor skills. The primary treatment for babies with torticollis is a comprehensive

program designed by a skilled pediatric physical therapist. Physical therapy treatment is

essential in order to avoid surgical intervention, and/or several long-term effects that

torticollis will have if untreated (see below). The word torticollis means “wryneck” in

Latin. An infant or baby with torticollis will typically tilt their head/neck one way, and

look the opposite direction.

There are two very different types of torticollis: congenital muscular torticollis

(CMT) and acquired torticollis. CMT is caused directly by a tightness and weakness of

the neck muscles. The tightness is likely a result of damage to the muscles in utero, or at

some point during the delivery process. The sternocleidomastoid muscle is typically the

primary muscle injured. When the muscle(s) heals, it also shortens – just like a scar that

heals and tightens the skin in and around the scar. CMT is typically noticed when the

infant is 2-3 weeks old - when the healing process of the damaged muscle(s) is complete.

A small percentage of babies (8-10%) with CMT also have developmental dysplasia of

the hip.

Acquired torticollis is characterized by the same neck posture, however, the neck

tightness and weakness are secondary to something else. Potential causes of acquired

torticollis include: an ocular muscle impairment, a bony abnormality of the neck or spine,

poor head control or muscle imbalance from a neurological impairment, or neck

posturing to decrease esophageal pain and inflammation caused by gastroesophageal

reflux disorder. The onset of neck position varies depending on the primary cause.

A Total Approach offers a unique physical therapy evaluation and individualized

treatment program for an infant or baby with torticollis. The evaluation includes the

assessment of neck flexibility and strength; comprehensive assessment of arm, leg and

trunk flexibility and strength; and the assessment of gross motor skill development.

Without proper evaluation and early intervention, an infant or baby with torticollis is at

risk for developing permanent long-term effects.

Babies with torticollis have limited neck range of motion that, unless treated

appropriately will result in a permanent loss of flexibility.  Additionally, where there is

tightness in muscles, there is always weakness. The weak neck muscles result in poor

head control, and difficulty assuming upright and/or prone (belly) positions that are

integral in the development of gross and fine motor skills. Babies may also develop a

significant muscle strength imbalance that can cause an arm preference, or a preference

for attending to one side of the body more than the other. A muscle strength imbalance

will have immediate implications for a baby’s development of proper reaching, rolling,

sitting, crawling and walking skills.  A muscle strength imbalance can have later

implications that impact higher-level balance and bilateral coordination skills. Babies

with torticollis could also develop a permanent flattening of the head on one side and/or

asymmetrical facial features.

A skilled pediatric physical therapist will assist the family in carrying out appropriate

flexibility and strengthening exercises. Treatment often includes myofacial release

techniques in the neck and shoulder area, and/or transverse friction massage to the injured

muscle itself in conjunction with proper stretches. Strengthening exercises for infants and

babies include the facilitation of appropriate head control, arm strength, and gross motor

skill facilitation. Physical therapy will also focus on positioning the baby for play,

including techniques for increasing tummy time, and positions to prevent flattening of the

head.

At times a baby’s primary physician will recommend a consultation with additional

medical specialists, including pediatric orthopedists, orthopedic surgeons,

opthamologists, neurologists, gastrointestinal physicians, and/or orthotists. Please consult

your doctor or physical therapist with any further questions.  

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