PHYSIO-graphy, KOLKATA (2025)

22/08/2025

𝘿𝙤𝙬𝙣 𝙎𝙮𝙣𝙙𝙧𝙤𝙢𝙚 (Trisomy 21)

𝙄𝙣𝙩𝙧𝙤𝙙𝙪𝙘𝙩𝙞𝙤𝙣

Down Syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21 (trisomy 21). It is the most common chromosomal abnormality in humans and a leading genetic cause of intellectual disability. The condition was first described by John Langdon Down in 1866, hence the name "Down Syndrome."

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𝙀𝙥𝙞𝙙𝙚𝙢𝙞𝙤𝙡𝙤𝙜𝙮

•Global prevalence: ~1 in 700 live births.

•Risk increases with maternal age:

- < 30 years: 1 in 1000 births

- At 35 years: 1 in 350 births

- At 40 years: 1 in 100 births

•Both sexes are affected equally.

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𝙀𝙩𝙞𝙤𝙡𝙤𝙜𝙮 𝙖𝙣𝙙 𝙂𝙚𝙣𝙚𝙩𝙞𝙘𝙨

Down Syndrome is caused by genetic nondisjunction or structural abnormalities involving chromosome 21:

1. Trisomy 21 (95%) – An extra chromosome 21 due to meiotic nondisjunction.

2. Translocation (3–4%) – Part of chromosome 21 attaches to another chromosome (often chromosome 14).

3. Mosaicism (1–2%) – Some cells have 46 chromosomes, others have 47. Clinical severity depends on the proportion of trisomic cells.

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𝙍𝙞𝙨𝙠 𝙁𝙖𝙘𝙩𝙤𝙧𝙨

•Advanced maternal age (>35 years).

•Advanced paternal age (less significant but contributory).

•Family history of Down Syndrome (especially translocation type).

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𝘾𝙡𝙞𝙣𝙞𝙘𝙖𝙡 𝙁𝙚𝙖𝙩𝙪𝙧𝙚𝙨

•Physical Characteristics

•Flat facial profile and nasal bridge.

•Upward slanting palpebral fissures.

•Epicanthic folds.

•Small ears, protruding tongue (macroglossia).

•Short neck with excess nuchal skin.

•Brachycephaly (shortened head).

•Single transverse palmar crease (simian crease).

•Short, broad hands with clinodactyly (curved 5th finger).

•Wide sandal gap (between big toe and 2nd toe).

•Hypotonia (floppiness) in infancy.

•Growth & Development

-Short stature.

-Global developmental delay.

-Intellectual disability (mild to moderate).

•Associated Medical Conditions

-Cardiac anomalies (40–50%): e.g., atrioventricular septal defect, ventricular septal defect, atrial septal defect, patent ductus arteriosus.

-Gastrointestinal anomalies: duodenal atresia, Hirschsprung’s disease.

-Hematological issues: higher risk of leukemia.

-Endocrine disorders: hypothyroidism, diabetes.

-Neurological issues: increased risk of early-onset Alzheimer’s disease.

-ENT problems: recurrent ear infections, hearing loss.

-Vision issues: cataracts, refractive errors.

-Musculoskeletal: joint laxity, atlantoaxial instability.

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𝘿𝙞𝙖𝙜𝙣𝙤𝙨𝙞𝙨

-Prenatal Diagnosis

-Screening tests (done between 11–14 weeks and 16–20 weeks):

-Nuchal translucency (via ultrasound).

-Maternal serum markers (PAPP-A, β-hCG, AFP, estriol, inhibin-A).

𝘿𝙞𝙖𝙜𝙣𝙤𝙨𝙩𝙞𝙘 𝙩𝙚𝙨𝙩𝙨:

-Chorionic villus sampling (CVS).

-Amniocentesis.

-Non-invasive prenatal testing (NIPT) using cell-free fetal DNA.

𝙋𝙤𝙨𝙩𝙣𝙖𝙩𝙖𝙡 𝘿𝙞𝙖𝙜𝙣𝙤𝙨𝙞𝙨

-Clinical recognition (based on dysmorphic features).

-Confirmation: karyotyping.

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𝙈𝙖𝙣𝙖𝙜𝙚𝙢𝙚𝙣𝙩

There is no cure for Down Syndrome, but multidisciplinary management greatly improves quality of life.

•Medical Management

-Early detection and treatment of congenital heart disease.

-Regular monitoring for hypothyroidism, vision, hearing, and hematological disorders.

-Vaccinations and preventive healthcare.

•Rehabilitation & Support

-Physiotherapy: Improves hypotonia, posture, balance, and motor development.

-Occupational therapy: Enhances daily living skills, fine motor skills, and independence.

-Speech therapy: Addresses delayed speech, articulation problems, and feeding issues.

-Special education: Tailored learning programs for intellectual disability.

-Family counseling & support groups: Reduces caregiver burden and enhances coping.

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𝙋𝙧𝙤𝙜𝙣𝙤𝙨𝙞𝙨

-Life expectancy has significantly improved (from

22/08/2025

CRYOTHERAPY

21/08/2025

Electromyography

21/08/2025

𝙈𝙤𝙩𝙤𝙧 𝙉𝙚𝙪𝙧𝙤𝙣 𝘿𝙞𝙨𝙚𝙖𝙨𝙚 (MND)

𝙄𝙣𝙩𝙧𝙤𝙙𝙪𝙘𝙩𝙞𝙤𝙣

Motor Neuron Disease (MND) is a progressive neurodegenerative disorder that selectively affects the motor neurons — the nerve cells responsible for controlling voluntary muscle activity such as walking, speaking, breathing, and swallowing. The condition results in progressive muscle weakness, wasting, and eventual paralysis, while cognitive functions are typically preserved in most cases.

It is sometimes used interchangeably with Amyotrophic Lateral Sclerosis (ALS), though ALS is one of the most common forms of MND.

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𝙀𝙥𝙞𝙙𝙚𝙢𝙞𝙤𝙡𝙤𝙜𝙮

•Incidence: ~2 per 100,000 population annually.

•Prevalence: ~6–8 per 100,000 population.

•Age of onset: Most commonly between 40–70 years.

•Gender ratio: Slight male predominance (1.5:1).

•Survival: Median survival is 3–5 years post-diagnosis (depends on type).

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𝘾𝙡𝙖𝙨𝙨𝙞𝙛𝙞𝙘𝙖𝙩𝙞𝙤𝙣 / 𝙏𝙮𝙥𝙚𝙨 𝙤𝙛 𝙈𝙉𝘿

There are several clinical subtypes based on the distribution and predominance of symptoms:

1. Amyotrophic Lateral Sclerosis (ALS)

-Most common form.

-Involves both upper motor neuron (UMN) and lower motor neuron (LMN).

-Features: weakness, fasciculations, spasticity, hyperreflexia.

2. Progressive Bulbar Palsy (PBP)

-Predominantly affects cranial nerves.

-Dysarthria, dysphagia, tongue wasting, emotional lability.

3. Progressive Muscular Atrophy (PMA)

-Predominantly LMN involvement.

-Muscle wasting, fasciculations, weakness.

4. Primary Lateral Sclerosis (PLS)

Pure UMN type.

-Spasticity, brisk reflexes, stiffness, minimal wasting.

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𝙀𝙩𝙞𝙤𝙡𝙤𝙜𝙮 𝙖𝙣𝙙 𝙍𝙞𝙨𝙠 𝙁𝙖𝙘𝙩𝙤𝙧𝙨

-Exact cause is multifactorial and not fully understood:

-Genetic factors: ~10% cases are familial (mutations in SOD1, C9orf72, TARDBP, FUS genes).

-Environmental factors: exposure to heavy metals, pesticides, viral infections.

-Excitotoxicity: Excess glutamate leading to motor neuron death.

-Oxidative stress and mitochondrial dysfunction.

-Autoimmune mechanisms are suggested but not proven.

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𝙋𝙖𝙩𝙝𝙤𝙥𝙝𝙮𝙨𝙞𝙤𝙡𝙤𝙜𝙮

•Progressive degeneration of motor neurons in:

-Motor cortex (UMN)

-Brainstem motor nuclei

-Anterior horn cells of spinal cord (LMN)

•Leads to denervation of skeletal muscle → atrophy, weakness, fasciculations.

•UMN degeneration → spasticity, hyperreflexia, Babinski sign.

•Sensory pathways are usually spared.

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𝘾𝙡𝙞𝙣𝙞𝙘𝙖𝙡 𝙁𝙚𝙖𝙩𝙪𝙧𝙚𝙨

1. Motor Symptoms

-Progressive, asymmetric weakness (limb onset in ~70%).

-Fasciculations and muscle cramps.

-Muscle wasting, especially of small hand muscles.

-Spasticity, stiffness, and brisk reflexes.

2. Bulbar Symptoms

-Dysarthria (slurred, nasal speech).

-Dysphagia (difficulty swallowing).

-Tongue wasting and fasciculations.

-Drooling, aspiration risk.

3. Respiratory Involvement

-Dyspnea, orthopnea, weak cough.

-Nocturnal hypoventilation.

4. Cognitive / Behavioral Features

~10–15% may develop Frontotemporal Dementia (FTD).

-Others may have mild executive dysfunction.

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𝙍𝙚𝙙 𝙁𝙡𝙖𝙜𝙨 𝙛𝙤𝙧 𝙈𝙉𝘿 (for clinicians)

-Progressive asymmetric weakness with wasting and fasciculations.

-Combination of UMN and LMN signs in the same region.

-Absence of sensory loss or sphincter disturbance.

-Poor response to conventional treatments.

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𝘿𝙞𝙖𝙜𝙣𝙤𝙨𝙞𝙨

There is no single confirmatory test. Diagnosis is clinical, supported by investigations.

1. Clinical examination: UMN + LMN signs in multiple regions.

2. Electromyography (EMG): Evidence of denervation and reinnervation.

3. Nerve conduction studies: Normal sensory conduction (to rule out peripheral neuropathy).

4. MRI: Exclude structural lesions (e.g., cervical spondylotic myelopathy, tumors).

5. Genetic testing: In familial cases.

6. Laboratory tests: Exclude mimics (thyroid, vitamin B12 deficiency, autoimmune).

Diagnostic Criteria: El Escorial Criteria (widely used).

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𝘿𝙞𝙛𝙛𝙚𝙧𝙚𝙣𝙩𝙞𝙖𝙡 𝘿𝙞𝙖𝙜𝙣𝙤𝙨𝙞𝙨

-Cervical spondylotic myelopathy.

-Multiple sclerosis.

-Multifocal motor neuropathy.

-Myasthenia gravis.

-Spinal muscular atrophy.

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𝙋𝙧𝙤𝙜𝙣𝙤𝙨𝙞𝙨

-Progressive and fatal.

-Median survival:

1) ALS: 3–5 years from onset.

2) PBP: 2–3 years.

3) PMA/PLS: longer survival (may exceed 10 years).

Death usually from respiratory failure or aspiration pneumonia.

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𝙈𝙚𝙙𝙞𝙘𝙖𝙡 𝙈𝙖𝙣𝙖𝙜𝙚𝙢𝙚𝙣𝙩

There is no cure, but treatments help prolong life and improve quality.

1. Disease-modifying drugs

-Riluzole: prolongs survival by ~3–6 months.

-Edaravone: antioxidant, slows functional decline in some patients.

2. Symptomatic management

-Antispasticity drugs (baclofen, tizanidine).

-Anticholinergics (for drooling).

-Non-invasive ventilation (BiPAP).

-Gastrostomy feeding for dysphagia.

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𝙋𝙝𝙮𝙨𝙞𝙤𝙩𝙝𝙚𝙧𝙖𝙥𝙮 𝙈𝙖𝙣𝙖𝙜𝙚𝙢𝙚𝙣𝙩

Physiotherapy plays a crucial role in maintaining independence and quality of life.

•Goals

-Maintain functional mobility.

-Prevent secondary complications.

-Improve respiratory efficiency.

-Provide patient and caregiver education.

𝙄𝙣𝙩𝙚𝙧𝙫𝙚𝙣𝙩𝙞𝙤𝙣𝙨

1. Muscle Strength & Flexibility

-Gentle strengthening of unaffected muscles.

-Avoid over-fatigue and overexertion.

-Stretching to prevent contractures.

2. Mobility Training

-Gait re-education with assistive devices.

-Orthotics (AFOs, neck collars).

3. Respiratory Physiotherapy

-Breathing exercises.

-Airway clearance techniques.

-Inspiratory muscle training (where tolerated).

4. Energy Conservation Techniques

-Activity pacing.

-Ergonomic modifications.

-Use of wheelchairs / adaptive devices.

5. Pain & Spasticity Management

-Heat therapy, TENS (adjunctive).

-Gentle stretching and positioning.

6. Palliative Care & Counseling

-Patient/family education.

-Coping strategies.

-End-of-life care planning.

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𝙆𝙚𝙮 𝙏𝙖𝙠𝙚𝙖𝙬𝙖𝙮𝙨 𝙛𝙤𝙧 𝙋𝙝𝙮𝙨𝙞𝙤𝙩𝙝𝙚𝙧𝙖𝙥𝙞𝙨𝙩𝙨

1) MND is a progressive, incurable disease, but physiotherapy helps maintain function, dignity, and quality of life.

2) Avoid aggressive strengthening, as overwork can worsen weakness.

3) Focus on adaptive strategies, energy conservation, and respiratory care.

4) Interdisciplinary care (physiotherapist, neurologist, occupational therapist, speech therapist, psychologist, palliative care team) is essential.

20/08/2025

Introduction to Biomechanics

19/08/2025

Pathological GAIT

18/08/2025

𝙏𝙤𝙧𝙩𝙞𝙘𝙤𝙡𝙡𝙞𝙨 (Wry Neck)

Torticollis, also known as wry neck, is a condition characterized by an abnormal, asymmetrical head or neck position due to sustained contraction or shortening of the sternocleidomastoid (SCM) muscle, or due to other neuromuscular, skeletal, or ocular causes. The term literally means “twisted neck.”

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𝙏𝙮𝙥𝙚𝙨 𝙤𝙛 𝙏𝙤𝙧𝙩𝙞𝙘𝙤𝙡𝙡𝙞𝙨

Torticollis can be classified broadly into:

1. Congenital Muscular Torticollis (CMT)

-Most common form in infants.

-Due to unilateral fibrosis/shortening of the SCM.

-Often associated with birth trauma, intrauterine malposition, or ischemic injury.

2. Acquired Torticollis

-May occur at any age, secondary to:

-Muscular causes – spasm or contracture of SCM, trapezius, or other cervical muscles.

-Skeletal causes – cervical spine anomalies, fractures, atlantoaxial rotatory subluxation.

-Neurological causes – dystonia, CNS lesions, syringomyelia.

-Ocular causes – ocular muscle imbalance (compensatory head tilt).

-Inflammatory/Infectious causes – retropharyngeal abscess, adenitis, tonsillitis.

-Drug-induced – acute dystonic reactions (e.g., to antipsychotics, metoclopramide).

3. Spasmodic Torticollis (Cervical Dystonia)

-A chronic neurological movement disorder.

-Involuntary intermittent or sustained contraction of neck muscles leading to abnormal postures and tremors.

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𝙋𝙖𝙩𝙝𝙤𝙥𝙝𝙮𝙨𝙞𝙤𝙡𝙤𝙜𝙮

1) Congenital muscular type: Fibrosis within SCM due to ischemic injury during labor → shortening → head tilt towards affected side and chin rotated to opposite side.

2) Acquired types: Imbalance in tone or control of cervical musculature caused by pain, trauma, infection, or CNS pathology.

3) Spasmodic type: Dysfunction in basal ganglia pathways leading to dystonia.

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𝘾𝙡𝙞𝙣𝙞𝙘𝙖𝙡 𝙁𝙚𝙖𝙩𝙪𝙧𝙚𝙨

1) Congenital Muscular Torticollis (CMT)

-Detected in infants (within 2–4 weeks of birth).

-Head tilt towards the affected SCM with chin rotated to the opposite side.

-Possible palpable SCM mass (“sternomastoid tumor”).

-Facial asymmetry (plagiocephaly) in untreated cases.

-Limited cervical range of motion.

2) Acquired Torticollis

-Sudden onset neck pain and stiffness.

-Restricted ROM due to spasm or guarding.

-Abnormal head position.

-Associated features depending on cause (fever, trauma, neurological symptoms, ocular issues).

3) Spasmodic Torticollis

-Gradual onset in adults (20–60 years).

-Involuntary spasms, jerks, or sustained abnormal head posture.

-May be painful.

-Psychological and social impact due to visible deformity.

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𝘿𝙞𝙛𝙛𝙚𝙧𝙚𝙣𝙩𝙞𝙖𝙡 𝘿𝙞𝙖𝙜𝙣𝙤𝙨𝙞𝙨

-Cervical spine fracture/dislocation.

-Atlantoaxial subluxation (Grisel’s syndrome).

-Posterior fossa tumors.

-Ocular palsy.

-Retropharyngeal abscess or cervical lymphadenitis.

-Dystonic reactions to drugs.

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𝙄𝙣𝙫𝙚𝙨𝙩𝙞𝙜𝙖𝙩𝙞𝙤𝙣𝙨

-Clinical examination (key for diagnosis).

-Ultrasound of SCM – in infants with suspected congenital muscular torticollis.

-X-ray cervical spine – to rule out bony abnormalities or subluxation.

-MRI brain/cervical spine – if neurological cause suspected.

-Blood tests – if infection/inflammation is suspected.

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𝙈𝙖𝙣𝙖𝙜𝙚𝙢𝙚𝙣𝙩

1. Congenital Muscular Torticollis

-Physiotherapy is the gold standard:

-Gentle passive stretching of SCM.

-Active range-of-motion exercises.

-Positioning therapy: encourage infant to turn head towards affected side.

-Tummy time and play-based facilitation.

-Parental education.

-Helmet therapy if plagiocephaly develops.

-Surgical intervention (SCM release/lengthening) if:

-Severe contracture persists beyond 1 year.

-No improvement after 6–12 months of physiotherapy.

2. Acquired Torticollis

-Identify and treat underlying cause:

-Analgesics, muscle relaxants, or anti-inflammatory drugs.

-Immobilization (short-term) if traumatic.

-Antibiotics/drainage for infectious causes.

-Ocular correction (glasses, surgery).

-Stop offending drugs in drug-induced dystonia.

•Physiotherapy:

-Heat therapy and TENS for pain/spasm relief.

-Gentle stretching of tight muscles.

-Strengthening of contralateral and weak neck muscles.

-Postural correction training.

3. Spasmodic Torticollis

•Medical:

-Botulinum toxin injections (first-line, gold standard).

-Anticholinergics, muscle relaxants, benzodiazepines.

•Surgical:

-Selective denervation or deep brain stimulation (DBS) in severe refractory cases.

•Physiotherapy:

-Gentle stretching and relaxation.

-Sensory tricks (“geste antagoniste” – touching face to reduce spasm).

-Balance and posture training.

-Stress management techniques.

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𝙋𝙧𝙤𝙜𝙣𝙤𝙨𝙞𝙨

-Congenital muscular torticollis: 90% cases resolve with physiotherapy if started early (

17/08/2025

𝙎𝙡𝙪𝙢𝙥 𝙏𝙚𝙨𝙩

The Slump Test is a neurodynamic test primarily used to assess the mobility and sensitivity of the neural tissues of the spinal cord and peripheral nerves, especially the sciatic nerve and its branches. It is a provocative test that helps detect adverse neural tension or dural involvement in patients presenting with low back pain, leg pain, or suspected radiculopathy.

First described by Maitland, it is a widely applied test in musculoskeletal and neurological physiotherapy practice.

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𝙋𝙪𝙧𝙥𝙤𝙨𝙚 𝙤𝙛 𝙩𝙝𝙚 𝙎𝙡𝙪𝙢𝙥 𝙏𝙚𝙨𝙩

1) To assess neural mechanosensitivity of the spinal cord, dura mater, and sciatic nerve.

2) To differentiate neurological pain from musculoskeletal pain.

3) To identify neural contribution in conditions like:

4) Lumbar disc herniation (PIVD)

5) Lumbar radiculopathy

6) Sciatica

7) Spinal canal stenosis

8) Neural tension syndromes

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𝙋𝙖𝙩𝙞𝙚𝙣𝙩 𝙋𝙤𝙨𝙞𝙩𝙞𝙤𝙣𝙞𝙣𝙜 𝙖𝙣𝙙 𝙋𝙧𝙤𝙘𝙚𝙙𝙪𝙧𝙚

•Starting Position

-Patient sits upright on the examination plinth, hands behind back, thighs fully supported, knees together.

-Examiner stands beside the patient.

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𝙎𝙩𝙚𝙥𝙨 𝙤𝙛 𝙩𝙝𝙚 𝙏𝙚𝙨𝙩

1. Slump (Thoracic and Lumbar Flexion):

-Ask the patient to slump forward through thoracic and lumbar flexion while keeping the pelvis neutral.

-Examiner gently overpresses if required to maintain position.

2. Cervical Flexion:

-Patient flexes the neck (chin to chest).

-Examiner may apply gentle overpressure to maintain.

3. Knee Extension:

-Patient actively extends one knee as much as possible.

-Neural tissue tension usually increases here.

4. Ankle Dorsiflexion:

-Patient actively dorsiflexes the ankle of the extended leg.

-Increases tension on tibial nerve and sciatic nerve tract.

5. Sequence Reversal (Sensitization):

-Examiner releases cervical flexion (returns neck to neutral).

-If symptoms reduce, it confirms neural involvement.

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𝙄𝙣𝙩𝙚𝙧𝙥𝙧𝙚𝙩𝙖𝙩𝙞𝙤𝙣 𝙤𝙛 𝙍𝙚𝙨𝙪𝙡𝙩𝙨

•Positive Slump Test

-Reproduction of the patient’s familiar radiating symptoms (tingling, burning, pain, numbness) along the distribution of the sciatic nerve.

-Symptoms are eased when cervical flexion is released → confirms neural tissue sensitivity.

•Negative Slump Test

-No reproduction of symptoms or only a mild stretching sensation in posterior thigh (normal hamstring tension).

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𝘾𝙡𝙞𝙣𝙞𝙘𝙖𝙡 𝙉𝙤𝙩𝙚𝙨 𝙛𝙤𝙧 𝙋𝙝𝙮𝙨𝙞𝙤𝙩𝙝𝙚𝙧𝙖𝙥𝙞𝙨𝙩𝙨

-Always test symptomatic side last to avoid patient guarding.

-Perform gradually and sensitively, as it may strongly reproduce symptoms.

-Differentiate between muscle stretch pain (hamstring, calf) and neural pain (sharp, radiating, burning).

-Compare bilaterally.

A positive test should always be interpreted in the clinical context – combine with history, neurological exam, and imaging if needed.

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𝙎𝙚𝙣𝙨𝙞𝙩𝙞𝙫𝙞𝙩𝙮 𝙖𝙣𝙙 𝙎𝙥𝙚𝙘𝙞𝙛𝙞𝙘𝙞𝙩𝙮

-Reported sensitivity: 84–91% for lumbar disc herniation.

-Specificity is lower (about 70%) → false positives may occur in hamstring tightness or musculoskeletal conditions.

-Hence, the slump test is more useful as a screening tool rather than a confirmatory diagnostic test.

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𝘾𝙡𝙞𝙣𝙞𝙘𝙖𝙡 𝘼𝙥𝙥𝙡𝙞𝙘𝙖𝙩𝙞𝙤𝙣𝙨

-Identifying neural component in low back and leg pain.

-Differentiating between neural vs. musculoskeletal restriction.

-Monitoring progress during neural mobilization techniques.

-Helps guide treatment strategies like nerve gliding (sliders/tensioners), posture correction, and load management.

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𝘾𝙤𝙣𝙩𝙧𝙖𝙞𝙣𝙙𝙞𝙘𝙖𝙩𝙞𝙤𝙣𝙨 / 𝙋𝙧𝙚𝙘𝙖𝙪𝙩𝙞𝙤𝙣𝙨

-Acute spinal cord compression

-Suspected spinal infection or tumor

-Severe spinal instability

-Recent surgery in spine or lower limb

-Severe irritable symptoms (to avoid flare-ups)

16/08/2025

Bone Physiology

15/08/2025

𝙎𝙥𝙞𝙣𝙖 𝘽𝙞𝙛𝙞𝙙𝙖

Spina Bifida is a neural tube defect (NTD) that occurs when the neural tube (which later develops into the brain, spinal cord, and meninges) fails to close completely during early embryonic development — usually within the first 28 days of pregnancy. This results in varying degrees of malformation of the spinal cord, vertebrae, and overlying tissues.
It is a congenital condition and one of the most common permanently disabling birth defects worldwide.

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𝙀𝙥𝙞𝙙𝙚𝙢𝙞𝙤𝙡𝙤𝙜𝙮

•Incidence: Approximately 1 in 1,000 live births globally (varies by region and folic acid supplementation rates).

•Geographical variation: Higher prevalence in areas with lower folic acid intake before and during early pregnancy.

•Gender: Slightly more common in females than males.

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𝙀𝙩𝙞𝙤𝙡𝙤𝙜𝙮 (𝘾𝙖𝙪𝙨𝙚𝙨)

Spina Bifida is multifactorial, involving genetic predisposition and environmental triggers.

1. Genetic factors

-Mutations or variants in genes involved in folate metabolism (e.g., MTHFR gene).

-Family history of neural tube defects increases the risk.

2. Environmental factors

-Folic acid deficiency during early pregnancy.

-Maternal diabetes.

-Maternal obesity.

-Hyperthermia in early pregnancy (fever, hot tubs).

-Certain medications (e.g., valproic acid, carbamazepine — antiepileptics that interfere with folate metabolism).

-Poor maternal nutrition.

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𝘾𝙡𝙖𝙨𝙨𝙞𝙛𝙞𝙘𝙖𝙩𝙞𝙤𝙣

Spina Bifida can be broadly classified into Occulta and Cystica (or Aperta):

1. Spina Bifida Occulta

-Mildest form; often asymptomatic.

-The vertebral arch is incomplete, but the spinal cord and meninges are intact.

-Overlying skin is usually normal or may show:

-A small tuft of hair.

-Birthmark.

-Dimple over the affected area.

-Often detected incidentally on X-ray.

2. Spina Bifida Cystica (Open/Visible lesion)

Includes:

𝙄) Meningocele

-Protrusion of meninges through the vertebral defect.

-Sac contains cerebrospinal fluid (CSF) but no spinal cord tissue.

-Neurological deficits are minimal or absent.

𝙄𝙄)Myelomeningocele

-Most severe and common clinically significant form.

-Protrusion of meninges and spinal cord through the defect.

-Associated with varying degrees of motor, sensory, and sphincter dysfunction below the lesion level.

-Often associated with Chiari II malformation and hydrocephalus.

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𝙋𝙖𝙩𝙝𝙤𝙥𝙝𝙮𝙨𝙞𝙤𝙡𝙤𝙜𝙮

-Failure of neural tube closure between the 3rd and 4th week of gestation leads to incomplete formation of vertebral arches.

-This allows meninges and/or spinal cord to protrude.

-In open forms (especially myelomeningocele), neural tissue is exposed and vulnerable to mechanical injury and infection.

-Neurological impairment depends on lesion level and extent of neural involvement.

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𝘾𝙡𝙞𝙣𝙞𝙘𝙖𝙡 𝙁𝙚𝙖𝙩𝙪𝙧𝙚𝙨

Depends on type and severity:

1) Spina Bifida Occulta

-Usually no symptoms.

-Occasionally back pain or neurological symptoms if tethered cord syndrome develops.

2) Meningocele

-Visible fluid-filled sac at birth.

-Usually intact neurological function.

3) Myelomeningocele

-Visible sac containing spinal cord tissue.

-Motor deficits: Weakness or paralysis in lower limbs.

-Sensory loss below lesion level.

•Orthopedic deformities: Clubfoot, hip dislocation, scoliosis.

•Bowel and bladder dysfunction (neurogenic bladder, constipation, incontinence).

•Hydrocephalus: Enlarged head, bulging fontanelle, vomiting, irritability.

•Chiari II malformation: Brainstem and cerebellar symptoms (stridor, swallowing difficulty, apnea).

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𝘼𝙨𝙨𝙤𝙘𝙞𝙖𝙩𝙚𝙙 𝘾𝙤𝙣𝙙𝙞𝙩𝙞𝙤𝙣𝙨

-Hydrocephalus.

-Chiari II malformation.

-Tethered cord syndrome.

-Syringomyelia.

-Orthopedic deformities.

-Skin ulceration due to sensory loss.

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𝘿𝙞𝙖𝙜𝙣𝙤𝙨𝙞𝙨

1) Prenatal Diagnosis

-Maternal serum alpha-fetoprotein (AFP): Elevated in open neural tube defects (16–18 weeks gestation).

-Amniocentesis: Elevated AFP and acetylcholinesterase.

-Ultrasound: Detects spinal defects, brain anomalies, ventriculomegaly.

2) Postnatal Diagnosis

-Physical examination of back.

-MRI or CT spine for detailed anatomy.

-Neurological assessment.

-Urodynamic studies for bladder function.

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𝙈𝙖𝙣𝙖𝙜𝙚𝙢𝙚𝙣𝙩

1) Prenatal

-Folic acid supplementation before conception and during early pregnancy (400 mcg daily for low risk; 4 mg for high risk).

-In selected cases: Fetal surgery to repair myelomeningocele before birth (improves motor outcomes).

2) Postnatal

A. Initial care

Protect the lesion (sterile, moist dressing).

Prevent infection (antibiotics).

Manage hydrocephalus (ventriculoperitoneal shunt if needed).

B. Surgical repair

Closure of defect within 24–48 hours after birth to reduce infection risk.

C. Rehabilitation

Physiotherapy: Prevent contractures, strengthen muscles, assist mobility.

Orthotic devices: Braces, crutches, wheelchairs as needed.

Bladder and bowel management: Clean intermittent catheterization, medications, bowel programs.

D. Multidisciplinary care

Neurosurgeon, orthopedic surgeon, physiotherapist, occupational therapist, urologist, social worker.

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𝙋𝙧𝙤𝙜𝙣𝙤𝙨𝙞𝙨

-Depends on lesion type, level, and presence of complications.

-Occulta: Usually normal life expectancy.

-Meningocele: Good prognosis if no associated anomalies.

-Myelomeningocele: Prognosis varies; lifelong disability common, but with proper care, many can lead productive lives.

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𝙋𝙧𝙚𝙫𝙚𝙣𝙩𝙞𝙤𝙣

-Folic acid supplementation before conception and in early pregnancy.

-Avoid known teratogens (certain drugs, alcohol, hyperthermia).

-Good control of maternal diabetes.

-Balanced nutrition before and during pregnancy.

14/08/2025

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