Habilitation Perspective in the management of Cerebral Palsy.pptxICDDelhi
Institute for Child Development (ICD) is a private company registered under section 25 of company registration act, 1956. ICD is the brain child of Dr. Mansoor Alam, a pediatric developmental specialist who has treated more than 50,000 children with special needs during the last 25 years. ICD is a premier organization which provides the best treatment to children with complex health issues, developmental delay, neurodevelopmental disorders and childhood onset disabilities. ICD’s facility is available to children from birth to 21 years of age. Adult with disabilities are specially supported in case of need. ICD is the only organization in India which practices integrated approach of treatment, named as Multimodal treatment / Combination Therapy for children with developmental disorders. Combination Therapy combines the best available treatments into one treatment plan to get the best result. Researches have proved that combination therapy is better than isolated therapy. In fact, pediatric developmental disorders cannot be treated in isolation. It requires a team of professionals with varied specialization.
Presently ICD has its model centre named as “PediaMed” in Malviya Nagar (South Delhi), New Delhi. The model centre has capacity to treat 100 children in daily basis.
ICD is going to have its branches in the following places
North Delhi
West Delhi
East Delhi
Noida ( UP)
Ghaziabad (UP)
Faridabad (Haryana)
Gurugram /Gurgaon (Haryana)
Bahadurgarh (Haryana)
ICD is open to collaborate with other organizations with similar interests in rest of India
CP is the most common motor disability in childhood. Cerebral means having to do with the brain. Palsy means weakness or problems with using the muscles. CP is caused by abnormal brain development or damage to the developing brain that affects a person's ability to control his or her muscles.
•Catchall term for a variety of disorders that affect a child’s ability to
•Move and
•Maintain posture and balance
•It only affects the brain’s ability to control the muscles and not muscles or nerves themselves
•The symptoms and which areas are affected will depend on the severity and location of the brain injury
•May include Intellectual Disbaility, seizures, language disorders, learning disabilities, vision and hearing problems.
Loading…
•Affects the development of the child so also known as a developmental disability
•Usually a life long disability but mild form may recover soon.
•The problem affects the child’s future ability to learn and do
•The effect depends on a number of factors like
Pediatrics notes about "Floppy infant". These notes were published in 2018.
You can download them also from
- Telegram: https://t.me/pediatric_notes_2018
- Mediafire: http://www.mediafire.com/folder/u5u60m184t9z7/Pediatric_Notes_2018
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
Follow us on: Pinterest
Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
2. OBJECTIVES
Define tone and how it is maintained
Distinguish b/w hypotonia and muscle weakness
Differences between central and peripheral causes of
hypotonia.
Differential diagnosis of hypotonia in infants
Appropriate medical and genetic evaluation
3. MUSCLE TONE AND TYPES
Muscle tone is usually defined as the resistance to passive movement.
Muscle tone is most easily shown as movement of an extremity but certainly including the trunk, neck,
back and the shoulder and pelvic girdles.
In the clinical setting we speak of 2 types of tone: phasic tone and postural tone
Phasic tone is passive resistance to movement of the extremities (appendicular structures)
Postural tone may be thought of as the resistance to passive movement of the axial muscles (neck,
back, trunk )
There may be a discrepancy between phasic tone and postural tone in a given patient.
Best example is in the 3- or 4-month-old infant who has suffered an hypoxic-ischemic insult at birth
and now has poor head and trunk control (postural hypotonia) but is beginning to become stiff
(hypertonic) in the extremities (phasic tone) and will eventually develop increased reflexes and tone
(spasticity) in the appendicular and axial muscles.
5. Motor signals are transmitted directly from
cortex to spinal cord through cortico spinal tract
Indirectly from multiple accessory pathway
involving basal ganglia, cerebelum and various
nuclei of brain stem.
Direct pathways are more concerned with
discrete and detailed movement, specially of
distal segment of limbs.
6. MOTOR UNIT
Muscle tone is maintained at the peripheral level by
participation of the fusimotor system
pathways involves the muscle spindles that promote
muscle contraction in response to stretch
inverse myotactic reflex involving the Golgi tendon
organ that provides a braking mechanism to the
contraction of muscle.
A lesion interrupting the stretch reflexes at any level in
the lower motor neuron (LMN) will result in a loss of
muscle tone and stretch reflexes i.e. flaccidity
7.
8. Hypotonia vs Weakness
Hypotonia
Is decresed resistance to passive movement around a joint
Also defined as an impairment, of the ability to sustain postural control,
and movement against gravity
Hypotonic infant may not have weakness
Central origin hypotonia – may or may not be associated with weakness
Hypotonia with pofound weakness suggest LMN cause
Weakness
has reduction in maximum power that can be generated
Weak infant many times have hypotonia
9. Because dysfunction at any level of the nervous system can cause hypotonia so D/D
is extnsive
central causes account for 60% to 70% cases
peripheral causes occur in up to 30% cases.
Central conditions include hypoxic-ischemic encephalopathy, other
encephalopathies, brain insult, intracranial hemorrhage, chromosomal disorders,
congenital syndromes, inborn errors of metabolism, and neurometabolic diseases.
Peripheral disorders include abnormalities in the motor unit, specifically in the
anterior horn cell (ie spinal muscular atrophy),
peripheral nerve (ie, myasthenia)
neuromuscular junction (ie botulism)
muscle (ie, myopathy).
Both central and peripheral manifestations such as acid maltase deficiency
(Pompe disease).
16. Differentiating Central Versus Peripheral Causes
Central
Hypotonia and do not track visually, fail to
imitate facial gestures or appear lethargic
Dysmorphic
Motor delay +Social + cognitive delay
Hypotonia with normal strength
N to brisk DTR
h/s/o HIE or birth trauma
Seizure, abn eye movement, depressed level of
consciousness
Predominant axial weakness
Fisting of hand
Persistent neonatal reflexes
brisk jaw jerk
crossed adductors / scissoring on ventral suspension
Infants who have experienced central injury usually
develop increased tone and DTR but infants who
have central developmental disorders do not
Peripheral
Alert, respond well to surrounding &
normal sleep wake cycle
Hypotonia + profound weakness
& hyporeflexia DTR / areflexia
Motor delay
Normal social & cognitive
Family history of NMD or maternal
myotonia
Reduced or absent antigravity
movement with increased range of
movement
Frogged leg posture
Fasciculations (SMA )
Muscle atrophy / pseudohypertrophy
Respiratory & feeding impairement
17.
18.
19. APPROACH
Name
Age of presentation :-
SMA type 1- 0 to 6 mth
SMA type 2 - 6 to 18 month
SMA type 3 - after 18 month
neonatal myasthenia soon after birth
juvenile myasthenia - > 6 month
Term infant who born healthy but develops
floppiness after 12 to 24 hours may have IEM
20. Chief complaints
INFANT
floppy since birth
• Slips from hands
• Less movement of limbs
• Baby is alert but less motor activity.
• Delayed motor development
• Able to walk but with frequent falls
Difficult sucking, weak cry
Recurrent respiratory infection
21. Sudden onset – IVH in preterm infants
Course – progressive ( SMA )
static
fluctuating
Severity
Apnea, aspiration ( gag reflex lost )
Respiratory difficulty ( inv of resp muscles )
h/o fatigue on continious sucking – myasthenia
h/o constipation – botulinum
Distribution of weakness –
Proximal ( unable to stand from sitting ) - myopathy
Distal ( unable to hold things ) – neuropathy
Associate atrophy of muscle – myopathy, neuropathy
Muscle pain :-
Myositis
Metabolic cause
22. Joint deformity –
Arthrogyropsis
zellwegar syndrome
chromosomal disorder
CMD
transitory neonatal myasthenia
Congenital dislocation of hip – frequent finding
CNS Cause –
Seizure , abnormal movement
Lack of response to visual, auditory stimuli
MR , learning disability
Poor state of alertness
23. Antenatal history
h/o decreased fetal movements
Polyhydramnios
Drug exposure ( lithium, phenytoin, carbamzepine )
Breech delivery / prolonged labour
Post natal history
h/o birth asphyxia
Weak cry at birth
Resp distress with prolonged ventilatory support
Feeding difficulty
Convulsion
Neonatal hyperbillirubinemia
h/o honey consumption
h/o umbilical hernia, contractures , joint dislocation
Low Apgar scores may suggest floppiness from birth
24. Family History
History of consanginity – for inheritence
AD- myotonic dystrophic
AR – LGMD & metabolic myopathy
Maternal transmission – mitochondrial myopathy
Family H/O wheelchair dependent, spinal /
skeletal deformity, functional limitation, early
death, cardiac disease
25. DEVELOPMENTAL HISTORY
Assesed in all four domains
Gross motor
Fine motor
Cognitive domain
Language domain
Preserved cognition / language with Isolated motor delay –
s/o NMD
Cognitive delay / language/ speech delay with vision or
hearing impairement with seizure – s/o CNS involvement
27. Head TO Toe EXAMINATION
Assessment for dysmorphic features
Dysmorphic facies- Prader Willi syndrome
Doll like facies – Pompes disease
Downy facies – trisomy 21, Zelleweger syndrome
Anterior fontenalle - hypothyroidism
Eyes – cataract ( lowe syndrome )
Eye lid - drooping of lid ( myasthenia )
Tongue – fasciculation ( SMA )
large tongue – storage disorders ( acid maltase / pompes disease )
High arched Palate – Neuromuscular disorders
Neurocutaneous markers / facial dysmorphism – CNS involvement
Genitelia – hypogonadism ( prader willi syndrome )
undescended testis ( weakness of gubernaculum)
Limbs examination – contractures ( arthrogyropsis ).seen in both neurogenic and
myopathic disorders.
28. TONE ASSESEMENT
INSPECTION
Observe of posture of child in bed
Floppy child – frog like position ( hip abd, knee flex )
PALPATION
Feel the muscle
Normal muscle feels rubbery
Hypotonic muscle feels soft and flabby
29. Movement at joint
Freely moving joints suggest hypotonia
Examine all4 limbs, assymetry
Check trunk tone
RAG DOLL PHENOMENON
Shake limbs to & fro and observe movement of distal joint
Hypotonia – ease of movement at joint incresed
Distal limb have wooble around a joint like as ragged doll
35. DTR
Central conditions :-
DTR hyperactive
clonus and primitive reflexes persist
Peripheral disorders
DTRs are normal decreased or absent
Other pertinent findings
poor trunk extension
Astasias (inability to stand due to muscular incoordination) in supported standing
Decreased resistance to flexion and extension of the extremities.
Exaggerated hip abduction and exaggerated ankle dorsiflexion.
Abnormalities in stability and movement may manifest in an older infant as W-sitting
a wide-based gait, genu recurvatum, and hyper pronation of the feet
36. ASSESEMENT OF WEAKNESS
Assessment for weakness includes evaluating for cry, suck, facial expressions, antigravity
movements, resistance to strength testing, and respiratory effort.
1. cough test :- Ability to cough and clear airway secretions. Apply pressure to the trachea and wait
for a single cough that clears secretions. If more than one cough is needed to clear secretions this is
indicative of weakness.
2. Poor swallowing ability as indicated by drooling and oropharyngeal pooling of secretions.
3. Character of the cry — infants with consistent respiratory weakness have a weak cry
4. Paradoxical breathing pattern — intercostal muscles paralysed with intact diaphragm.
5. Frog-like posture and quality of spontaneous movements — poor spontaneous movements and the
frog-like posture are characteristic of LMN conditions.
Infants who can generate a full motor response when aroused are more likely to be hypotonic than
weak.
37. Spinal muscular atrophies
are a heterogeneous group of disorders, usually genetic in origin, characterized by
the degeneration of anterior horn cells in the spinal cord and motor nuclei of the
brainstem.
Presence of wasting, areflexia and fasciculation differentiates from primary muscle
disease.
Diagnosis by (PCR RFLP )- exon 7 deletion
Muscle biopsy – group atrophy with small angulated fiber
38. Congenital Myasthenia syndromes
PRESYNAPTIC ( 6 % ) SYNAPTIC (14 % ) POST SYNAPTIC ( 70 % )
Defect in ChAT
-Floppy and weak
-extraocular bulbar and
respiratory muscle affected
Episodic apnea is cardinal
feature
AR INHERITANCE
AR INHERITANCE Primary AchR defeciency
Slow channel/ fast channeL
Group of disorders arise due to genetic mutation causing critical changes in presynaptic,
synaptic or post synaptic proteins.
These disorders are non immunologic so don’t respond with immune therapy as in MG
39. Transient neonatal myasthenic syndrome
is due to the passive placental transfer of antibodies against the
acetylcholine receptor protein from the mother who has
myasthenia to her unaffected fetus.
The severity of symptoms correlates with the newborn’s
antibody concentration.
Ptosis, facial weakness, poor feeding, weak and respiratory
insufficiency since birth.
Symptoms usually occur within hours of birth or up to 3 days
later.
Although weakness initially worsens, dramatic resolution
subsequently occurs.
The duration of symptoms averages 18 days and recovery is
complete.
The transitory disorder is diagnosed by the presence of
antibodies in the infant’s blood.
40. Congenital Myotonic dystrophy
Autosomal Dominant inheritance
caused by an unstable DNA trinucleotide repeat on chromosome 19 that can expand in successive generations.
Symptoms usually begin in young adult life and include weakness of the face and distal limb muscles, cataracts,
multiple endocrinopathies, frontal baldness in males, and myotonia.
Congenital myotonic dystrophy (Steinert disease) can afflict infants born to affected mothers.
Polyhydramnios is common, labor is prolonged, and delivery usually requires mechanical assistance.
Severely affected infants have inadequate diaphragm and intercostal muscle function and require assisted
mechanical ventilation.
Perinatal asphyxia can be a consequence of a prolonged and difficult delivery and resuscitation.
Facial paralysis, generalized muscular hypotonia, joint deformities, gastrointestinal dysfunction, and oral motor
dysfunction can occur.
Affected infants have a characteristic facial appearance, with tenting of the upper lip, thin cheeks, and wasting of
the temporalis muscles. They also tend to have dislocated hips, arthrogryposis, and club feet.
Limb weakness is proximal, tendon reflexes usually are absent and myotonia may not be elicited on
electromyography (EMG).
The patients tend to have intellectual deficits.
Cardiomyopathy contributes to early death, and the long-term prognosis is poor.
Respiratory failure and an increased risk of aspiration also lead to early death.
If the infant survives the first 3 postnatal weeks, motor function may improve, although facial diplegia usually persists.
41. Severe weakness of face, jaw and elevated diaphragm with
thin ribs on chest xray clues to diagnosis
42. - myotonia examined in mother during physical examination, myotonia may be demonstrated by asking
the patient to make tight fists and then to quickly open the hands.
- It may be induced by striking the thenar eminence with a rubber percussion hammer (percussion myotonia)
and it may be detected by watching the involuntary drawing of the thumb across the palm.
-Myotonia can also be demonstrated in the tongue by pressing the edge of a wooden tongue blade against
its dorsal surface and by observing a deep furrow that disappears slowly.
45. Prader-Willi syndrome
is characterized by hypotonia, hypogonadism, intellectual disability, short stature, and obesity.
Affected patients present at birth with profound hypotonia and feeding problems until 8 to 11
months of age, when they develop low-normal muscle tone and insatiable appetites.
Prominent physical features during childhood include a narrow bifrontal diameter, strabismus,
almond-shaped eyes, enamel hypoplasia, and small hands and feet.
The genetic abnormality in 75% of patients is a deletion of the long arm of chromosome 15 at
q11-q13.
Mostly the paternally derived chromosome has been deleted.
46.
47. botulinum
Infantile botulism is an age-limited disorder in which C botulinum is ingested, colonizes the intestinal
tract, and produces toxin in situ.
h/o ingestion of honey or corn syrup is present.
Historically, infants afflicted with botulism are between 2 and 26 weeks of age.
usually live in a dusty environment adjacent to construction or agricultural soil disruption, and become
symptomatic between March and October.
A prodrome of constipation, lethargy, and poor feeding is followed in 4 to 5 days by progressive
bulbar and skeletal muscle weakness and loss of DTRs.
Progressive muscle paralysis can lead to respiratory failure.
Symmetric bulbar nerve palsies manifested as ptosis, sluggish pupillary response to light,
ophthalmoplegia, poor suck, difficulty swallowing, decreased gag reflex, and an expressionless face
are primary features of infantile botulism.
Differential diagnosis includes sepsis, intoxication, dehydration, electrolyte imbalance, encephalitis,
myasthenia gravis.
Spinal muscular atrophy type I and metabolic disorders can mimic infantile botulism. Patients who
have spinal muscular atrophy type I generally have a longer history of generalized weakness,
do not typically have ophthalmoplegia and have normal anal sphincter tone.
Treatment for infantile botulism should be instituted promptly with intravenous human botulism
immune globulin, which neutralizes all circulating botulinum toxin, and supportive therapy for airway
maintenance, ventilation, and nutrition.
Infantile botulism usually is a self-limited disease lasting 2 to 6 weeks, and recovery recovery
generally is complete,although relapse can occur in up to 5% of infants.
48. benign congenital hypotonia
The most common clinical condition, although a diagnosis of exclusion.
presents with delays in achieving developmental milestones.
Benign congenital hypotonia improves with the maturity of the central
nervous system.
Characteristics include generalized symmetric flaccidity of muscles and
hypermobile joints.
Because this is a diagnosis of exclusion, the history does not suggest any
neurologic or metabolic disorders.
Muscle stretch reflexes are normal or only slightly exaggerated and routine
laboratory test results are within normal limits.
Patients must be counseled about the possibility of joint dislocations in the
future.
An increased incidence of intellectual disability, learning disability, or other
sequelae of cerebral abnormality often is evident later in life despite the
recovery of normal muscle tone.
A high familial incidence also is reported.
49. Lab Evaluation
Rule out sepsis Full blood count , C reactive protein, Erythrocyte
sedimentation rate, Blood culture, Urine culture Cerebrospinal fluid
culture and analysis
Serum electrolytes, calcium, magnesium
Serum glucose
Liver functions / Ammonia
Thyroid function test
TORCH titre & urine C/S for CMV(organomegaly & brain calcification)
Blood Gases
If acidosis is present, plasma amino acids and urine organic acids
(aminoacidopathies and organic acidemias)
serum lactate (disorders of carbohydrate metabolism, mitochondrial
disease)
Pyruvate & ammonia (urea cycle defects)
Acyl carnitine profile (organic acidemia, fatty acid oxidation disorder )
50. If central hypotonia is suspected
MRI brain/CT brain :- structural malformations, neuronal migrational defects
Abnormal signals in the basal ganglia (mitochondrial abnormalities)
Brain stem defects (Joubert syndrome)
Deep white matter changes can be seen in Lowe syndrome
Abnormalities in the corpus callosum may occur in Smith-Lemli-Opitz synd
Karyotyping
Molecular genetics
Very long chain fatty acids (VLCFA) – peroxisomal disorders
Serum/Urine amino acids
Urine organic acids
Blood/CSF lactate
Carnitine/acylcarnitine levels
Serum Ammonia
51. If peripheral hypotonia is suspected
Creatine kinase level :- elvated in MD not in SMA
Electromyography (EMG)/Nerve conduction studies (NCS) –
may be delayd till 6 months b’se neonatal results are difficult to
interpret
Muscle biopsy – to diff b/w myopathy from muscle dystrophy,
myopathy from neuropathy
Molecular genetics – CTG repeats, SMN deletion
Toxin assay i.e. Botulism
Auto antibody level
Specific DNA testing for myoyonic dystrophy & SMA (SMN
gene )
52. Treatment
Treatment of the infant who has hypotonia must be tailored to the specific responsible condition.
In general therapy is supportive.
Rehabilitation with the aid of physical and occupational therapists.
Nutrition is of primary importance to maintain ideal body weight for the age and sex which is often
achieved through the nasogastric route or percutaneous gastrostomy.
maximize muscle function and minimize secondary crippling anatomic deformities.
Regular orthopaedic review for scoliosis and hip subluxation / dislocation is an important aspect of
management.
Vigorous therapy for respiratory tract infections and annual flu vaccinations are advised in affected
patients.
In certain conditions (muscular dystrophies, central core disease) anaesthetic complications such as
malignant hyperthermia and difficulty in reversing muscle paralysis may be an issue hence if these
patients are undergoing anaesthesia, it is imperative that the anaesthetist is informed in advance.
Genetic counselling is an important adjunct for the family.
Once a definitive diagnosis is available discussing among professionals is of paramount importance
and discussing with parents and family members about the disease and prognosis is an
important step.
Weaning off the ventilator may be an issue as there may be social and ethical considerations
involved.
Counselling on family planning and future pregnancies with appropriate genetic diagnosis would be
helpful.
55. Clinical feature of floopy infant
Frog like posture Abducted leg at hip, flexed at knee
Pull to sit Excessive head lag and rounded back
Vertical suspension Slipping through hand
Ventral suspension Ragged doll like
Drooling of secretions Poor swallowing ability
Weak cry Respiratory weakness
Paradoxical breathing Intercostal muscle paralysis with intact
diaphragm
Plagiocephaly, arthrogyropsis
Seizure, apnea, feeding problem, abnormal
posturing
Decreased fetal movement
f/s/o severe CNS abnormality
56. CLINICAL CLUES AND INVESTIGATIONS
CONDITION CLINICAL CLUES INVESTIGATION
Spinal cord transection
Syringomyelia
Spinal dysraphism
Hemangioma or tuft of hair in midline
Scoliosis
Bowel / bladder dysfunctn
Mixed DTR
(- )abdominal / anal reflex
MRI spinal cord
Spinal Muscular Atrophy Tongue atrophy / fasciculations
Severe proximal muscle weakness
Absent DTR
Preserved social interaction
- EMG/ NCV – anterior
horn cell involvement
- PCR – deletion of
SMN gene
Perpipheral neuropathy Distal weakness
Absent DTR
Pes cavus
- NCV study
- nerve biopsy
- DNA testing for
specific demyelination
disorder
57. CONDITION CLINICAL CLUES INVESTIGATION
Myasthhenia gravis - Bulbar / oculomotor muscle
involvement
- True cong myasthenia is rare
- Exclude transient neonatal from
maternal history
- Single fiber EMG
- Serum antibodies to
acetylcholine receptors
-Response to
acetylcholinesterase
-inhibitors
- Electrodiagnostic studies
Infantile botulism Acute onset descending weakness
Cranial neuropathies
Ptosis
Dysphagia
Constipation
- Isolation of organism from
stool culture
- Toxin in stool
58. CONDITION CLINICAL CLUES INVESTIGATION
Cong myotonic dystrophy - Polyhydramnios
- Decresed fetal movement
- Inverted v apperance of
mouth
- Mother can have myotonia
- Premature cataract surgery
in mother
- Slender stature
Molecular DNA test
( CTG repest )
EMG in mother
Cong muscular dystrophy
( merasinopathy /
Fukuyama MD )
- Hypotonia, weakness,
contracture
- Associated brain / eye
problem
- Brain MRI - str / white
matter abn
- Raised CK
- Muscle biopsy – merosin
stain
59. CONDITION CLINICAL CLUES INVESTIGATIONS
Cong structural myopathy Hypotonia with feeding
problem at birth
Non progressive weakness
Central core – ass with
malignant hyperthermia
Myotubular myopathy –
ptosis with extraocular palsies
Nemaline myopathy – ass
with feeding problem
- Muscle biopsy for definitive
diagnosis
- ECG
- Genetic mutation study
Pompes disease Cardiomegaly
Cardiac failue
Enalrged tongue
- Blood smear – vacuolated
lymphocyte
-Urine oligosacharides
-ECG & ECHO changes
- Acid maltase assay in
cultured fibroblast
61. TAKE HOME MESSAGE
Hypotonia is characterized by reduced resistance to passive range of motion in joints versus
weakness which is a reduction in the maximum muscle power .
(Dubowitz, 1985; Crawford,1992; Martin, 2005)
Central hypotonia accounts for 60% to 80% of cases of hypotonia whereas peripheral
hypotonia is the cause in about 5% to 20% of cases.
Disorders causing central hypotonia often are associated with a depressed level of
consciousness, predominantly axial weakness, normal strength accompanying the hypotonia,
and hyperactive or normal reflexes.
(Martin, 2005;Igarashi, 2004; Richer, 2001; Miller, 1992; Crawford, 1992; Bergen, 1985;
Dubowitz, 1985)
50% of patients who have hypotonia are diagnosed by history and physical examination alone
(Paro-Panjan, 2004)
An appropriate medical and genetic evaluation of hypotonia in infants includes a karyotype,
DNA-based diagnostic tests, and cranial imaging.
(Battaglia, 2008; Laugel, 2008; Birdi, 2005; Paro-Panjan, 2004; Prasad, 2003; Richer, 2001;)
Infant botulism should be suspected in an acute or subacute presentation of hypotonia in an
infant younger than 6 months of age who has signs and symptoms such as constipation,
listlessness, poor feeding, weak cry and a decreased gag reflex.
(Francisco, 2007; Muensterer, 2000)