Podcast
Questions and Answers
What gait is commonly observed in a child with Duchenne's Muscular Dystrophy?
What gait is commonly observed in a child with Duchenne's Muscular Dystrophy?
Which sign indicates difficulty in standing up from the floor in a child with Duchenne's Muscular Dystrophy?
Which sign indicates difficulty in standing up from the floor in a child with Duchenne's Muscular Dystrophy?
What type of muscular dystrophy is characterized by slower progression and a longer life expectancy compared to Duchenne's Muscular Dystrophy?
What type of muscular dystrophy is characterized by slower progression and a longer life expectancy compared to Duchenne's Muscular Dystrophy?
What is a potential complication of Myelomeningocele in Spina Bifida?
What is a potential complication of Myelomeningocele in Spina Bifida?
Signup and view all the answers
Which of the following treatment options helps to improve muscle strength in Duchenne's Muscular Dystrophy for a limited duration?
Which of the following treatment options helps to improve muscle strength in Duchenne's Muscular Dystrophy for a limited duration?
Signup and view all the answers
What are the signs of shunt malfunction in children with spina bifida?
What are the signs of shunt malfunction in children with spina bifida?
Signup and view all the answers
What is a common treatment approach for congenital torticollis?
What is a common treatment approach for congenital torticollis?
Signup and view all the answers
Which of the following is a common sign of congenital hip dysplasia?
Which of the following is a common sign of congenital hip dysplasia?
Signup and view all the answers
What is the most common etiology for cases of scoliosis?
What is the most common etiology for cases of scoliosis?
Signup and view all the answers
What is a primary characteristic of Erb’s palsy in infants?
What is a primary characteristic of Erb’s palsy in infants?
Signup and view all the answers
Which treatment is typically recommended for scoliosis curves between 25 and 40 degrees?
Which treatment is typically recommended for scoliosis curves between 25 and 40 degrees?
Signup and view all the answers
Fetal Alcohol Syndrome (FAS) is primarily caused by which factor?
Fetal Alcohol Syndrome (FAS) is primarily caused by which factor?
Signup and view all the answers
What condition is characterized by anterior wedging of thoracic bodies?
What condition is characterized by anterior wedging of thoracic bodies?
Signup and view all the answers
What type of curvature in scoliosis is considered severe?
What type of curvature in scoliosis is considered severe?
Signup and view all the answers
Which characteristic is true about cerebral palsy?
Which characteristic is true about cerebral palsy?
Signup and view all the answers
Which statement accurately describes X-linked diseases?
Which statement accurately describes X-linked diseases?
Signup and view all the answers
What is a characteristic of X-linked dominant disorders?
What is a characteristic of X-linked dominant disorders?
Signup and view all the answers
What is a common complication of hemophilia?
What is a common complication of hemophilia?
Signup and view all the answers
Which of the following describes Duchenne Muscular Dystrophy (DMD)?
Which of the following describes Duchenne Muscular Dystrophy (DMD)?
Signup and view all the answers
Which type of muscular dystrophy is most common?
Which type of muscular dystrophy is most common?
Signup and view all the answers
Study Notes
Genetic & Developmental Disorders
- This is a course focusing on genetic and developmental disorders.
- The course objectives include diagnosing and monitoring diseases, discussing pharmacological agents in physical therapy treatment, and listing inherited genetic code defects.
- X-linked disorders are those passed on through the X chromosome. Males are more affected as they have only one X chromosome.
- X-linked disorders are also called sex-linked disorders.
X-Linked Disorders
- X and Y chromosomes have different genetic information content.
- X-linked diseases usually occur more in males. Affected males have one X chromosome.
- Recessive genes on the one X chromosome cause the disorder.
- Females with one affected X chromosome are carriers.
X-Linked Dominant Disorders
- Inherited dominant alleles are carried on the X chromosome.
- Both males and females may be affected.
- Fragile X syndrome is an example.
- It results in intellectual disability, behavioral and learning challenges, and tends to affect males more severely.
X-Linked Recessive Disorders
- For a female, two affected X chromosomes need to be present.
- For a male, one affected X chromosome must be present.
- Examples include red-green colorblindness, Hemophilia A, Duchenne's Muscular Dystrophy, and Becker's Muscular Dystrophy.
Hemophilia
- A bleeding disorder caused by a lack of clotting factor.
- Bleeding can be spontaneous or due to trauma, with potential internal bleeding or hematuria.
- Clinical manifestations include excessive bruising and persistent bleeding into joints (hemarthrosis), most frequently in the knee, ankle, and elbow.
- Hemarthrosis symptoms include swelling, tingling, pain, decreased range of motion (ROM), and protective muscle spasms.
- Complications may include joint contracture and muscle weakness.
- Management focuses on medical infusions with clotting factors for pain management and preventing deformities.
Muscular Dystrophies
- A group of inherited progressive neuromuscular disorders.
- The largest and most common group affecting childhood.
- Six major types, including Duchenne's Muscular Dystrophy (DMD) which is X-linked recessive.
- Boys usually begin to show symptoms of muscle weakness between ages 1-6.
- The disease progresses affecting gait (waddling gait) and other functional activities.
- Gower's sign is typically observed: child pushing hands up legs to stand.
- A characteristic finding for DMD is progressive weakness, toe walking (calf muscle tightness/weakness in anterior tibialis), hip abductor weakness, difficulty climbing stairs/walking, and shoulder girdle weakness with scapular winging.
- Additional manifestations may include respiratory failure and heart failure which usually occur between 16-35 years of age.
- Treatment for DMD includes corticosteroids to manage strength and function and slow process of muscle weakening.
- Becker's Muscular Dystrophy is also an X-linked recessive disorder, but similar but with slower progression and longer life expectancy.
- Other Muscular Dystrophies include Facioscapulohumeral Dystrophy (FSHD), Limb-girdle Dystrophy (LGMD), Myotonic Dystrophy (MD), and Congenital Muscular Dystrophy (CMD).
Other Developmental Disorders
- Spina Bifida: Congenital neural tube defect, failure of neural tube to close during development (by day 28 of gestation).
- Multifactorial etiology, related to genetic predisposition, drugs, and environmental factors, particularly folic acid deficiency.
- Occurs in the low thoracic, lumbar, or sacral regions (most frequently lumbosacral).
- Affects the CNS, musculoskeletal, and urinary systems. Different types of Spina Bifida have varying severity of effects and types of symptoms.
- Congenital Torticollis: Wry neck due to unilateral tightness/spasm of SCM muscles.
- Occurs most often within the first 2 months of life, characterized by lateral cervical flexion/tilting and rotation towards the affected side of contracture with fascial asymmetries.
- Predisposing factors include uterine environment, muscle tone, cervical-vertebral abnormalities, and birth trauma.
- Management options include physical therapy and medication for treatment, such as nonsteroidal anti-inflammatory drugs or intramuscular injections of botulinum toxin. Surgery if conservative management is not effective.
- Congenital Hip Dysplasia: Malalignment of the femoral head within the acetabulum.
- Develops in the last trimester of pregnancy.
- Etiology, influenced by fetal positioning, environmental, and genetic factors.
- Presence of tightness and asymmetrical hip abduction with asymmetric shortening of the affected side is typical.
- Treatment varies, dependent on age and severity and may include Pavlik harness and physical therapy.
- Congenital Limb Deficiencies: Malformation occurring in utero secondary to altered developmental course resulting in limb or parts of limbs that don't form normally, are missing, extra, or abnormally shaped or limb proportions or digits.
- Etiology includes poor blood supply, genetic factors, constricting amniotic bands and infections. Treatment may include strengthening, ROM, weight-bearing, prosthetic training, encouraging symmetrical movements.
- Erb's Palsy: Paralysis of the upper extremity (UE) due to traction injury to the brachial plexus, commonly during delivery.
- Characterized by arm held in adduction and internal rotation at the shoulder, wrist pronated, and fingers flexed (waiter's tip), which usually resolves within the first year.
- Physical therapy includes ROM maintenance, preventing subluxation, improving active movements, sensory stimulation, and educating parents on handling and positioning.
Arthrogryposis Multiplex Congenita (AMC)
- Characterized by extensive contractures, unknown etiology, with a small percentage being autosomal dominant.
- Could be caused by any condition limiting fetal movement.
- Presents with joint contractures, dislocations, muscle weakness/atrophy, and cylinder-like extremities.
- Treatment: Positioning, strengthening, stretching, functional adaptation, splinting, gross motor skill improvement.
Fetal Alcohol Syndrome (FAS)
- Results from maternal alcohol use during pregnancy, characterized by growth retardation, cognitive and physical disabilities.
- Heart problems and limb dislocations are also more common in affected children.
- Many children with FAS experience seizures; Microcephaly and characteristic facial features (small eyes and flattened upper lip).
- Affects multiple areas of the brain such as the corpus callosum, frontal lobe, hippocampus, and cerebellum.
- No specific diagnostic tool for FAS; diagnosis is made through maternal history and physical appearance and disabilities of the child. Brain damage is permanent. Medications are frequently used to control seizure disorders.
- PT, OT, and SLPs are often involved to manage motor, behavioral, emotional, and speech issues, though there are no treatments for the actual brain damage.
Scoliosis
- Abnormal lateral curvature of the spine.
- Most cases are idiopathic (80%).
- Functional scoliosis can be reversed.
- Structural scoliosis is fixed.
- Neuromuscular or degenerative causes are possible, and may be associated with poor posture, leg length discrepancies, and lead to pain.
- Severity is classified based on degree of curvature: mild (<25°), moderate (25-40°), and severe (>40°) degrees.
- Treatment includes monitoring curves, spinal orthoses for moderate curves, surgery for severe curves, and PT focusing on education and general strengthening.
Kyphosis & Kyphoscoliosis
- Scheuermann's disease is a structural deformity often classified by anterior wedging of the vertebrae.
- Commonly affects adolescents (12-16 years) and is usually asymptomatic and resolves during growth.
- Treatment includes bracing, surgery, and physical therapy for posture, exercises, stretching, and strengthening.
Cerebral Palsy (CP)
- A developmental disorder, a group of motor disorders, affecting movement and muscle tone.
- Unknown etiology or causes include injury, lesion, or malformation to the brain that occurs before, during, or soon after birth, resulting in non-progressive damage (permanent damage).
- Divided into Spastic (most common, associated with damage to the cerebral cortex, leading to increased muscle tone impacting hip flexors, knee flexors, etc), Dyskinetic (damage to the basal ganglia, characterized by abnormal movement patterns, such as dystonia, chorea, and athetosis), and Ataxic (damage to the cerebellum, marked by hypotonia, poor coordination, and balance issues).
- Several possible causes and risk factors include preterm birth, low birth weight, anoxia, fetal or neonatal stroke, intracranial hemorrhage, intrauterine infection, postnatal infection, maternal events, lack of prenatal care, and genetic factors.
- There are multiple categorization options based on the limbs involved.
- Treatment options include medications, physical therapy, occupational therapy and speech therapy, along with adaptations, such as splints, adaptive seating, bracing and orthotics.
Board Question
- The question and answer regarding a 10-year-old boy's difficulties in standing up from floor, using hands to push on legs, are most associated with Duchenne muscular dystrophy (DMD).
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
Related Documents
Description
This quiz covers various aspects of genetic and developmental disorders, with a focus on X-linked disorders. Explore the differences between recessive and dominant disorders, their inheritance patterns, and examples such as Fragile X syndrome. Test your understanding of these genetic conditions and their implications.
