Congenital Disorders (1)

7/28/2019 Congenital Disorders (1)

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Congenital Disorders

Neuromuscular Impairment

and

Spina Bifidaby isha urlin



Neuromuscular Impairment

• A neuromuscular impairment is a disorder

that affects the peripheral nervous system

(PNS).

This system includes muscles, nerve-

muscle (neuromuscular) junction,

peripheral nerves in the limbs and the

motor-nerve cells in the spinal cord.



Ateiology

It is suspected that Neuromuscular Impairments

are caused mainly as a result of genetic, gene-

mutation.



Signs & Symptoms

• Muscle pain and weakness

• Loss of muscle bulk

•

Fasciculations (spontaneous contraction)• Hypotonia (decreased muscle tone)

• Cramping

• Numbness• Difficulty breathing

• Difficulty swallowing



Categories of NM Impairments

• Metabolic myopathies

• Mitochondrial Disorders

• Muscular Dystrophies



Muscular Dystrophy

Muscular dystrophies are a group of inherited

disorders characterised by progressive muscle

wasting and weakness.



Physical Appearance



Types of Muscular Dystrophy

• Duchenne’s Muscular Dystrophy (DMD)

• Becker’s Muscular Dystrophy (BMD)

•

Emery-Dreifuss Muscular Dystrophy• Limb Girdle Muscular Dystrophy (LGMD)

• Facioscapulo-humeral Muscular Dystrophy

(FSHD)• Oculopharyngeal Muscular Dystrophy (OPMD)

• Congenital Muscular Dystrophy (CMD)



Age Ranges & Area Affected

•Duchenne’s- early childhood/ legs & upper arms

• Becker’s- teens to early 20s/ heart & breathing ms.

• Emery-Dreifuss- adolescence/ shoulder & upper

arms

• Limb Girdle- men & women/ around top of arms &

legs

•Facioscapulo-humeral - 40s-50s

• Oculopharyngeal – 50s or 60s/ eyes & throat

• Congenital- 0- 6mths / poor head control



Types of Muscular Dystrophy



Duchenne’s Muscular

Dystrophy

• DMD is an X-linked recessive condition which

presents in early childhood and inevitably

progresses. Some carriers also have

symptoms.

• DMD is caused by abnormalities of the

dystrophin gene, which is responsible for a

cytoskeletal protein named dystrophin,located in muscle fibres.



Pedigree (genetic fomat)



Signs & Symptoms•

Delayed and abnormal motor development-Not walking independently by age -18 months

-Difficulty running, properly

-Difficulty jumping with both feet together-Difficulty climbing stairs

• Gower’s manoeuvre – proximal muscle

weakness.• Muscle hypertrophy (calf muscles)

• Delayed speech



Gower’s Maneouvre



Laboratory Tests

•

A blood test for creatine kinase (CK) - in manytypes of MD, the blood level of CK is very high.

• A muscle biopsy - The sample is examinedunder the microscope and the muscle proteins

may be tested.• Genetic analysis - It can detect many (not all)

cases of MD.

• An electromyogram (EMG) - this is a recordingof the electrical activity in a muscle.

• Muscle ultrasound is used to look forsuspected CMD



Differential Diagnosis

• Myopathic Disorders

• Metabolic myopathies

• Other Muscular Dystrophies

• Other Neuromuscular Disorders



Management

Multidisciplinary approachMain focus on five areas:

– Improvement

– Maintenance and support of muscle strength andfunction

– Prevention and management of spinal deformity

–

Management of respiratory complications – Prevention and treatment of cardiomyopathy



Management Team

Requirements:

• Physiotherapy

•

Orthopaedics• Respiratory team

• Cardiology

• Other important input – genetics, dietetics,psychology, occupational & wheelchair

therapy.



Medical Management

AIMs • To minimise the impact of the

predictable complications of the disease

on the affected person and his family.

• To allow the attainment of as good as

possible quality of life.



Medical Management cont’d

• The use of glucocorticosteriods(prednisone/prednisolone and

deflazacort) are the gold standard

treatment for muscle weakness inchildren with DMD.

• Dosage:

– 0.75mg/kg/day- prednisone/prednislone

– 0.9mg/kg/day- deflazacort



Rehabilitation Management

AIM

• PHYSIOTHERAPY - To encourage activity and

develop and promote function.

Treatment:

Splinting – in ambulant children night splints

re- loss of dorsiflexion at the ankle.

Exercise – active exercise using the

hydrotherapy pool. Resisted exercises not

recommended.



Rehabilitation Management cont’d

Orthotics – (non- ambulant child) sitting AFOsto reduce contractures that will affect posture.

KAFOs to delay contracture development and

prolong ambulation.Assistive devices – (non-ambulant child)

standing frames or swivel walkers to delay

contracture development.Wheelchairs – to improve mobility and

independence.



Rehabilitation Outcome Measures

• MMT (Manual Muscle Testing)

• ROM (Range of Motion)

•

VAS (Visual Analog Scale) or Numerical Painscale

• FIM (Functional Independence Measure)

•

Barthel Index



Hi!



SPINA BIFIDA

Spina Bifida - “cleft spine”, is characterized

by the incomplete development of the

brain, spinal cord, and or meninges (the

protective covering around the brain and

spinal cord).



Ateiology

The exact cause of Spina Bifida isunknown.

There is disruption of the complete

closure of the neural tube, causing amalformation to develop.

It has been suspected that the cause is

multifactoral: genetic, nutritional, and

environmental factors play a role.



Signs & Symptoms



Signs & Symptoms

Depending on the type:

• an abnormal tuft or clump of hair or a small

dimple or birthmark on the skin at the site of

the spinal malformation.

• fluid-filled sac—visible on the back protruding

from the spinal canal.

• an area of abnormally developed spinal cord

tissue.



TYPES



Types of Spina Bifida

•

Occulta – mildest, most common form;malformation of one or more vertebrae

• Meningocele (men-in-jo-seal) – protrusion of spinal fluid & meninges through an abnormal

opening.• Myelomeningocele (my-lo-men-in-jo-seal) – most

severe; exposed spinal elements through anopening in the spine.

•

Encephalocele (en-cef-a-lo-seal)- the split occursat the back of the skull where tissue from thebrain can protrude through this split.

• Anencephaly (an-en-cef-a-lee) - the brain does

not develop and is not compatible with life.



Complications

Range from minor physical problems to severe &mental disabilities.

• Children with Myelomeningocele or

hydrocephalus (excess cerebrospinal fluid in

and around the brain) may have:

– Learning disabilities, including difficulty paying

attention

– Problems with language & reading

comprehension, trouble learning math



• Child with Hydrocephalus



Complications cont’d •

Hydrocephalus - Known as “water on thebrain”. This water is cerebro-spinal fluid (CSF).

• Occurs either when too much CSF is produced

or when the CSF is not reabsorbed back into

the bloodstream.

• Hence retention of the fluid causes raised

pressure in the brain. The pressure then

causes the baby’s head to increase in size.

• Approximately 80% of people with Spina

Bifida develop Hydrocephalus.



Laboratory Tests

In most cases, Spina Bifida is diagnosed

prenatally, or post natal.

Prenatal – maternal serum alpha fetoprotein

(MSAFP) screening and fetal ultrasound

(amniocentesis).

Post natal – X-ray, magentic resonance

imaging (MRI) and computed tomography (CT)

scan.




• Spine segmental dysgenesis

• Caudal regression syndrome (sacral agenesis)

• Multiple vertebral segmentation disorder

• VACTERL




• Spine segmental dysgenesis

A sporadic disorder characterised by congenital

acute-angle kyphosis or kyphoscoliosis that is

localised to a spinal segment, usually in thethoracolumbar or upper lumbar spine.



Differential Diagnosis cont’d

•

Multiple vertebral segmentation disorderAutosomal recessive disorder

characterised by short trunk dwarfism,

multiple segmentation anomalies of thevertebral column, and costal anomalies.

• Caudal regression syndrome (sacral agenesis)

A rare disorder associated with maternaldiabetes that affects the sacral or

lumbosacral spine.



Differential Diagnosis cont’d

•VACTERL (vertebral abnormalities, analatresia, cardiac abnormalities, tracheo-

oesophageal fistula and/or oesophageal

atresia, renal agenesis, and dysplasia and limbdefects)

– A non-random association of multiple mid-line

congenital anomalies including vertebral, anal,

and cardiac defects; tracheo-oesophageal fistula;renal anomalies; and limb anomalies.



Medical Management

Treatment depends on the type and severity of the disorder.

AIM:

To prevent infection from developing throughthe exposed nerves and tissue through the

spine defect,

To protect the exposed nerves and structuresfrom additional trauma.




•Surgery on the split (lesion) usually occurswithin days of the birth of the baby.

• An assessment of the baby’s condition is done

by a multidisciplinary team and discussed withthe parent(s).

• The timing of the baby’s surgery is also

dependent on the outcome of this discussion.• The surgery may be referred to as a back

closure.



Management Team

• Paediatrician

• Neurosurgeon

• Orthopaedic Surgeon

• Urologist & Urology Nurse Specialist

• Neurologist

•

Medical Social Worker• Physiotherapist

• Occupational Therapist




•

Prenatal surgery – This procedure takes place before the 26th week

of pregnancy — surgeons expose a pregnant

mother's uterus surgically, open the uterus and

repair the baby's spinal cord.

• Cesarean birth

Considered also to be part of the treatment for

spina bifida. Babies with myelomeningocele tend tobe in a feet-first (breech) position. Additionally, if a

large cyst has been detected, cesarean birth may be

a safer way to deliver the baby.




•

For hydrocephalus, the insertion for a VP(ventriculo-peritoneal) shunt is done.

– The VP shunt is a silicone tube that is inserted into

the skull and drains excess (CSF) from the brain

into the abdomen.

– The fluid is reabsorbed into the abdominal cavity.

• Bladder and bowel problems are treated –

through bladder catheterizations and bowelmanagement regimens.



Rehabilitation Management

Comprised of physical therapy, occupational

therapy, and recreational therapy.



Speech Therapy

Speech therapy may be indicated for patients

with speech and or swallowing difficulties.



Physiotherapy

Physical therapy programs are designed to

parallel the normal achievement of gross motor

milestones.



Occupational Therapy

Occupational therapy should be initiated early

to compensate for motor skill deficits and

should progress along the normal

developmental sequence.



Recreational Therapy

Recreational therapy is helpful for promoting

independence by enhancing play and

recreational opportunities.



Rehabilitation Outcome Measures

• Growth & Development Milestones

• Range of Motion (ROM)

• Gait Analysis

• Functional Independence Measure

• Cognitive Function Measure



Reference

•

Longmore M; Wilkinson I B; Rajagopalan S:Oxford Handbook of CLINICAL MEDICINE; sixth

edition

•

Krusen; Kottke; Ellwood: Handbook of PHYSICAL MEDICINE and REHABILITATION;

second edition

• Turek S L(M.D): ORTHOPAEDICS ‘Principles and

Their Application

• Thomson A; Skinner A; Percy J: Tidy’s

Physiotherapy; Twelfth edition

Congenital Disorders (1)

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