1

HARAMAYA UNIVERSITY
COLLEGE OF HEALTH AND MEDICAL SCIENCE
Department of Midwifery
neurology
By:-Taju Mohammed (MSc fellow in Clinical Midwifery)
Id number:-sgs/1107/14 E.C
 TOPIC
 Neuromuscular disease
 Spinal bifida and hydrocephalic
 Neonatal seizure
Introduction

 Neuromuscular diseases are a heterogeneous group of diseases that

are inherited or acquired, resulting from an abnormality in the
anterior horn motor cells, peripheral nerves, neuromuscular junctions,
or muscles 
 The most common neuromuscular diseases are motor neuron
diseases, neuropathies, neuromuscular junction diseases, and
muscular diseases based on anatomic localization [McDonald CM 2002]
Con….

 Motor neuron diseases are a group of diseases that progress with

lower or upper motor neuron involvement in motor neurons in the
anterior horn of medulla spinal
 the most common motor neuron disease are Hereditary spinal
muscular atrophy (SMA) and amyotrophic lateral sclerosis
 Neuropathies are pn diseases with sensory and motor symptoms
Con…
 The most common neuropathies are  Charcot‐Marie‐Tooth (CMT)
 Neuromuscular junction diseases are autoimmune diseases that
result from the destruction, impairment, or absence of one or more
proteins during neuromuscular transmission
 Most neuromuscular junction diseases are acquired
 associated with presynaptic, synaptic, and postsynaptic disorders.
 Most common is Myasthenia gravis (MG)
Con….
 muscle diseases involves the degeneration in muscle rather than in the
nerve. 
  It is a group of genetic diseases proceeding with progressive muscle
weakness
 causes subsequent limitation of joint movements, shortness of muscles, a
decrease in respiratory capacity, and posture disorders. 
Neuromuscular junction diseases
myasthenia gravis


Myasthenia gravis is a chronic autoimmune disorder in which the body



attacks its own neuromuscular connections.

It weakness the skeletal muscles that worsens after periods of activity


and improves after periods of rest

affects the voluntary muscles of the body, especially the eyes, mouth,


throat, and limbs.

Accroding to regional studies performed since 1990, the prevalence rate
ranges from approximately 7–20 per 100,000.[S Martignago, et al 2009]
 pathogenic mechanisms

 antigenic modulation by the binding and crosslinking of AChRs

 leading to increased endocytosis and degradation
 the impairment of AChR function, either by the blocking of ACh binding to
the receptor or the prevention of channel opening 
Con…
 common symptoms of MG:
 Visual problems, including drooping eyelids (ptosis) and double
vision (diplopia)
 Muscle weakness and fatigue.
 Facial muscle involvement causing a mask-like appearance
 Trouble swallowing or pronouncing words
 Weakness of the neck or limbs
 Shortness of breath
How is myasthenia gravis diagnosed?
 Blood tests. These tests look for antibodies that may be
present in people with MG.
 Genetic tests. These tests are done to check for conditions
like MG that may run in families.
 Nerve conduction studies. A test called repetitive nerve
stimulation may be used.
 Electromyogram (EMG). This test measures the electrical
activity of a muscle.
 management
 Medicine. Anticholinesterase medicines, steroids, or medicines that suppress
the immune system’s response (immunosuppressive) medicines may be used.
 Thymectomy. This is surgical removal of the thymus gland. The role of the
thymus gland in MG is not fully understood. People who have their thymus
removed tend to need less medicine.
 Plasmapheresis. This procedure removes abnormal antibodies from the
blood and replaces the blood with normal antibodies from donated blood.
 Immunoglobulin. This is a blood product that helps decrease the immune
system’s attack on the nervous system. It's given by IV (intravenously).
 Muscular Dystrophy
 group of inherited conditions that have a steady degenerative
progression which causes muscles to become weak over time
 Muscular dystrophies are characterized by progressive muscular

atrophy and weakness.

 the incidence of MD varies, depending on the specific type of MD

 Duchenne MD is the most common MD and is sex-linked, with an

inheritance pattern of 1 case per 3500 live male births[Dubowitz v ,et

al 1995]
 Eitiology

 The etiology of MD is an abnormality in the genetic code for specific

muscle proteins.
 Muscular dystrophy most often results from defective or absent
glycoproteins in the muscle membrane.
 Each type of muscular dystrophy results from different gene deletions
or mutations, causing various enzymatic or metabolic defects.
 Types of Muscular dystrophy
 types Prevalence Common Symptoms

DuMuscular Dystrophy Difficulty walking, running or jumping

Difficulty standing up
Learn to speak later than usual
Unable to climb stairs without support
Can have behavioural or learning
disabilities

Myotonic Dystrophy  Muscle stiffness

Clouding of the lens in the eye
Excessive sleeping or tiredness
Swallowing difficulties
Slow and irregular heartbeat

Becker Muscular Dystrophy Learn to walk later

Experience muscle cramps when
exercising
 Diagnosis
 Many different methods can be used to diagnose the various types
of muscular dystrophy (MD).
 investigating any symptoms
 discussing any family history of MD
 physical examination
 blood tests
 electrical tests on the nerves and muscles
 genetic screening and counselling.
 TRETEMANT
 There is no cure for muscular dystrophy, but treatments can help manage
symptoms and improve quality of life.
 Medical Interventions
 Anti-arrhythmic
 Non-steroidal anti-inflammatory drugs (NSAIDs
 Surgical Interventions
 Other Interventions
 Supportive physiotherapy
 Supportive counseling
 Genetic counseling
Complication
 Breathing problems.
 Heart problems
 Swallowing difficulty
 Vision problems.
 Scoliosis.
Charcot-Marie-Tooth disease
 Charcot-Marie-Tooth disease  is one of a group of disorders
that cause damage to the peripheral nerves
 PN is the nerves that transmit information and signals from the

brain and spinal cord to the body, as well as sensory

information back to the spinal cord and brain. 
 also directly affect the nerves that control the muscles.

 results in muscle weakness and wasting along with a decrease

in sensation [Sanna, F, et al 1993]
Cont…
 CMT is one of the most common inherited ND, affecting an estimated
126,000 individuals in the United States and 2.6 million people
worldwide.
 Causes
 mutations in genes that support or produce proteins involved in the
structure and function of either the peripheral nerve axon or the myelin
sheath.
 the most common form of CMT is caused by a duplication of the 1.4
region of chromosome 17 containing the peripheral myelin protein 22
gene [Bettoni, L., et al 1994]
 Signs & Symptoms

 Fatigue (most common to all those affected

 Pes- Cavus, also known as highly arched feet
 Very flat feet
 Lower legs are very thin, while the thigh muscles are a normal shape
and bulk
 Loss of fine motor control
 pain
Evaluation and Diagnosis
 detailed medical history, family history, and neurological
examination.
 nerve conduction studies

 electromyography (EMG

 Genetic testing

 nerve biopsy 
Management

 Surgical Treatment
 orthopedic surgery can help people cope with the disabling symptoms of
the disease
 Physiotherapy Management
 pain-relief drugs
 NTD
 Spina bifida (Latin: "split spine") is a developmental congenital
disorder caused by the incomplete closing of the embryonic neural
tube.
 Some vertebrae overlying the spinal cord are not fully formed and
remain unfused and open.
 If the opening is large enough, this allows a portion of the spinal cord
to protrude through the opening in the bones.
 There may or may not be a fluid-filled sac surrounding the spinal
cord.
 Spina bifida is one of the most common birth defects, with an average
worldwide incidence of one to two cases per 1000 births, but certain
populations have a significantly greater risk.
EMBRYOLOGY:
 The fetal nervous system starts as a single structure called the neural
plate.
 By the 28th day after conception the neural plate should fold over and
close to form the neural ‘tube’.
 Failure of the complete closure of the neural tube results in an NTD,
 there are several types NTD: anencephaly, spinal bifida and
encephalocele
 There are two main types of spinal bifida:
 spinal bifida occulta and spinal bifida cystic [Laurence KM, James N,
Miller M, et al. 1981]
 Spinal Bifida Occulta
 it involves the incomplete closure of the outer part of some vertebrae
 small enough in size for the spinal cord to be contained and not
protrude.
 Topical signs of this type of spinal bifida
 Hair growth, Dimple and Birthmark
 Meningocele is rare form of spinal bifida, where there is a sac
protruding from the infant’s back through an opening in the vertebrae.
 The sac is filled with fluid, but it doesn't contain the spinal cord, so
nerve damage is less likely.
 Between 70–80% of children with open spinal bifida will also
develop hydrocephalus – which is a collection of too much
cerebrospinal fluid (CSF) in the brain (Rintoul et al. 2002)
 Myelomeningocele
 is the most severe form of spinal bifida in which the spine and spinal
canal do not close before birth and the spinal canal is open along
several back vertebrae.
 The membranes and spinal nerves push through this opening at birth,
forming a sac on the baby's back, typically exposing tissues and nerve
 Open spinal bifida occurs in approximately 6 per 10,000 births (Boyd
et al. 2011)
 Risk factor SB
 Abnormal Embryology [Sutton, L.N.; et al 2011]
 The neural tube is a transient structure that is formed during the
development of an embryo
  it is the precursor to the central nervous system
 In human embryos, this entire process occurs between days 17 and 28
after fertilization
 Aberrations in neural tube closure during primary neurulation, can
lead to a host of NTDs, including SB  
 Genetics
 recent evidence points toward an omnigenic model of spinal bifida,
suggesting that human spinal bifida is caused by a series of genetic
variants and their interaction with environmental factors
 Various heterozygous missense mutations of the VANGL1 gene have
been identified and associated with various NTDs in humans
 The heterozygous frame shift mutation of the CELSR1 gene is found
to be associated with SB in a study of 192 patients in California 
 Maternal diabetes and obesity
 inadequate maternal nutritional status 
 deficiencies in folate, zinc, and B12
  Medications
  The most well-known drug responsible for NTDs, is valproate
(valproic acid), an antiepileptic drug (AED).
 This was first reported by Robert et al., who noticed an association
with women being treated for their seizure disorder with valproate  
 How is spinal bifida diagnosed?
 Prenatal Diagnosis
 Maternal serum alpha fetoprotein (MSAFP) screen
 At 16 to 18 weeks of pregnancy
 Ultrasound
 Amniocentesis.
 Postnatal Diagnosis
 ultrasound or X-ray imaging
  CT or MRI [Northrup, H.; et al 2014 ]
 Treatments
 Prenatal Surgery
 This is thought to protect the baby’s spinal cord from ongoing damage
in the uterus. 
 Data from the 2012 study showed that prenatal surgery reduced the need
to drain fluid from the brain, improved mobility, and increased the
chances that a child will be able to walk independently early on.
 Postnatal Surgery
 Treatments for Complications [ Simpson JL, et al 1989 ]
 Prevention
  Periconceptional folic acid intake
 The American Academy of Pediatrics endorses the US Public Health
Service (USPHS) recommendation that all women capable of
becoming pregnant consume 400 μg of folic acid daily to prevent
neural tube defects (NTDs).
 Studies have demonstrated that periconceptional folic acid
supplementation can prevent 50% or more of NTDs such as spinal
bifida and anencephaly
 Spinal bifida complications
 Abnormal sensation or paralysis
 mostly occurs with closed neural tube defects and myelomeningocele
 Chiari II malformation, is the brain stem and the cerebellum
(hindbrain) protrude downward into the spinal canal or neck area
 Blockage of cerebrospinal fluid, causing a condition called 
hydrocephalus.
 Tethered cord syndrome  is some type of tissue attached to and
pulling the cord down.
 Bowel and bladder incontinence
 Hydrocephalus
 is an abnormal build-up of cerebrospinal fluid(CSF) within and around
the brain, which can be due to excess fluid production, obstruction to its
flow, and inadequate absorption
 Under physiologic conditions, the same amount of CSF is produced and
absorbed daily.
 when there is a disruption in the normal flow or absorption of CSF, a
buildup of CSF can result.
 This can impair the functioning of the brain due to elevated pressure from
the CSF buildup and can result in brain damage, and in severe conditions,
death
 Classification
 hydrocephalus can be classified as communicating
hydrocephalus and non communicating hydrocephalus.
 Communicating hydrocephalus results when there is impedance of
cerebrospinal fluid after it exits the ventricles.
 Non communicating hydrocephalus occurs when there is intra-
ventricular obstruction of CSF
 always of obstructive type
 Clinical features
 developmental delay
 failure to thrive, apnea, and bradycardias.
  macrocephaly
  Urinary Incontinence cognitive impairments and gait disturbances.
 Management
 Non - Surgical Management
 Acetazolamide or Isosorbide are used temporarily to reduce CSF production,
and also increase CSF absorption by producing hyperosmotic diuresis.
 Surgical management
DEFINITIONS

NEONATAL SEIZURE:
 Neonatal seizures may be defined more aptly as paroxysmal
alterations in neurologic function (eg, behavioral, motor, or
autonomic function).
 Neonatal seizures are the most common overt manifestation of
neurological dysfunction in the newborn.
Pathophysiology

 Immature brain has many differences from the mature brain that
render it more excitable and more likely to develop seizures.
 Delay in Na+ , K+ -adenosine triphosphatase maturation and increased

NMDA and α-amino-3-hydroxy-5-methylisoxazole-4-propionate

(AMPA) receptor density.
 Delay in the development of inhibitory GABAergic transmission

 GABA in the immature brain has an excitatory function

[MacMillan, J. C et al 1991]
 CAUSES OF NEONATAL SEIZURES

Presentation Time Aetiology of Seizures

< 4 days • Hypoxic-ischaemic encephalopathy
• Acute metabolic disorders
• Intra cranial haemorrhage
• Acute metabolic disorders
• Hypoglycemia, Hypoelectrolytemia
• Congenital Viral infections
• Pyridoxine dependency
• Non-ketotic Hyperglycemia
• Urea cycle disorder
• Sepsis
Etiology HIE (35 - 45%)
Infarction & Hemorrhage (20-30%)

Brain Malformations (5-10%)

Infections (5-20%)

Metabolic (7-20%)
Genetic (6-10%)
Hypoxic-Ischemic Unknown/ Other (10%)
Encephalopathy
Infections
Brain
Malformations
Genetic Metabolic

Infarction &
Hemorrhage
 Neonatal Seizures - Types
01

Subtle
02

Clonic
03

Tonic
04

Spasms
05

Myoclonic
01

1 Subtle Seizures

 Transient eye deviations, nystagmus, blinking, mouthing,

 Abnormal extremity movements (rowing, swimming,
bicycling, pedalling, and Stepping),
 Fluctuations in heart rate, hypertension episodes, and
 Apnea.
 More commonly in premature
02

2 Clonic Seizures
 Focal:
 Involve face upper + /- lower extremities on

 one site “axial structures (neck / trunk)

 Usually associated with neuropathology (i.e. Cerebral infarction and intra

cerebral haemorrhage)
 Multi focal:
 Involve several body parts and often

 migrate in a non-jacksonian (random) manner may also involve the face.

 Consider the neonatal equivalent of generalized tonic – clonic seizures.

03

3 Tonic Seizures
 Focal :
 Sustained posturing of a limb or
 Asymmetric posturing of the trunk and / or neck

 Generalized :
 Decerebrate posturing

 Decorticate posturing
 Usually associated with apnoea and upward gaze of eyes

 Most common in preemies and usually

 indicates structural brain damage and IVH
04
4 Spasms

 Spasms are sudden generalized jerks lasting 1-2 sec

 May be flexor or extensor or mixed
 Shorter duration
 Cannot be provoked by stimulation or suppressed by restraint
 Usually associated with a single, very brief, generalized
discharge
 Epileptic in nature
 05
5 Myoclonic seizures

Characteristics: Rapidity of the jerks (<50 msec) and by their lack of rhythmicity

 Focal : Mostly flexors of upper limbs

 Multifocal:
 Asynchronous twitching of several parts of body.
 Generalized:
 Bilateral jerks of upper and some times lower limbs
 Rapid movements of distal flexors

 All 3 types of may occur during sleep in the new born.


Diagnosis
 History: Maternal drug abuse, Intrauterine infection, metabolic
disease, natal history, etc.
 Complete Hemogram

 Blood : Sugar, Calcium, Magnesium, Na+, K+ & HCO3 , Elevated

Ammonia, Lactate Levels, Culture & Sensitivity, plasma
amino acids, drugs
 CSF :Analysis, Biochemical & C/s.
 Cranial U/s. : hemorrhage, cysts, abnormal ventricles

 EEG :Plays an important role

Diagnosis - EEG
 Continuous electroencephalogram (cEEG): >3 hours of monitoring
is gold standard for the diagnosis of neonatal seizures
 Including video analysis can be very helpful
 Routine neonatal EEG recording, typically of 1 hour duration,
allows assessment of background activity, including cycling state
change, developmental maturity, and sometimes, epileptic
potential.
 Amplitude-integrated electroencephalogram (aiEEG): a bedside
technique increasingly being used by neonatologists for
neuromonitoring
MANAGEMENT: - Correct metabolic disturbances.
Hypoglycemia:
 (10% glucose in water) 2 mL/kg IV (0.2 g/kg) as bolus .
Follow with continuous infusion at up to 8 mg/kg/min IV
Hypocalcemia:
Calcium gluconate 10%: 100 mg/kg IV mixed with equal amount of 10% dextrose
given by slow I.V. over 1 to 3 minutes
Follow with maintenance of 500 mg/kg/24 hrs IV or PO
MANAGEMENT: - Correct metabolic disturbances.

Hypomagnesemia: Magnesium sulfate - 25-250 mg/kg/dose IV/IM

(50% magnesium sulphate 0.2 ml/kg)
Anticonvulsant therapy.
Phenobarbital: 20 mg/kg IV. If necessary, additional 10-20 mg/kg IV in 10 mg/kg aliquots
Maintenance: 4–6 mg/kg/24 hrs IV/PO
If 40 mg/kg of Phenobarbital is not effective, >>
Lorazepam: 0.05 mg/kg to 0.10 mg/kg IV in 0.05 mg/kg increments over several minutes.
 (Inj. Clonzepam Loading dose of 0.25 mg/kg followed by 0.01 to 0.03 mg/kg/orally given (or)

 Inj
 .

3. Phenytoin: 20 mg/kg IV (diluted in 0.9% NaCl) (Maximal rate: 1 mg/kg/min.

Monitor cardiac rate and rhythm).
Maintenance 5–10 mg/kg/24h IV
DIAZEPAM : Not safe in neonates as it interferes with vital functions its sedative effect half life
exceeds 24 hours
Taju m