Muscular Dystrophies, Motor neuron diseases, Ion channel diseases, Mitochondrial diseases, Myopathies, Neuromuscular junction diseases, Peripheral nerve diseases.
Muscular Dystrophies.
Motor neuron diseases.
A group of diseases characterized by progressive muscle weakness and loss of mobility due to defects in genes for muscle protein production.
Progressive muscle weakness, loss of mobility, agility, and body movements.
Floppy baby.
X-linked recessive trait.
Progressive weakness.
Spinal Muscular Atrophy.
Symmetric, predominantly proximal limbs, trunk, and neck weakness.
Nusinersen (Spinraza).
It increases the production of full-length SMN protein by modifying SMN2 pre-mRNA splicing.
X-linked recessive trait.
A mutation on the short arm of the X chromosome at Xp21.
Muscle weakness and atrophy.
Weakness likely caused by muscles instead of nerves.
It spans 0.1% of the total genome.
It has a high spontaneous mutation rate.
Reduced or absent deep tendon reflexes.
95–98%.
Muscular Dystrophies and other specified conditions.
Progressive, hereditary skeletal muscle diseases characterized by muscle weakness, wasting, defects in muscle proteins, necrosis of muscle tissue, and replacement of muscle tissue with connective and fatty tissue.
A non-steroid anti-inflammatory drug.
Achieve motor milestone.
Before the age of 6.
Aspiration and respiratory failure.
Sensori-Motor Training.
A group of muscular dystrophies that are present at birth.
It results in motor neuron degeneration.
Deliver a copy of the SMN1 gene to encode for human SMN protein.
Manual cough assist or insufflation-exsufflation devices.
Delayed motor development.
0-3 years old.
He identified the first case of what is now known as Duchenne muscular dystrophy.
Enlarged calf muscles.
Hyperlordosis, scoliosis, focal enlargement, edema, and fatty infiltration.
Heterozygous mutation involving deletion in one exon 7 and point mutation in the other allele.
Conflicts regarding interventions that may prolong life without necessarily impacting the quality of life.
Joint contractures.
SMA Type 3.
Fatigue, learning difficulties, muscle weakness, problems with motor skills, frequent falls, and progressive difficulty walking.
Wheelchair bound.
SMN 1 (spinal motor neuron 1) gene.
Based on the age of onset of the disease and the ability to achieve motor milestones.
A group of muscular dystrophies affecting the shoulder and hip girdles.
It plays a key role in spliceosomal small nuclear ribonucleoprotein (sNRP) assembly.
Progressive deterioration.
1 in 3500 live male births.
Males, due to its X-linked inheritance pattern.
Strengthening exercises to maintain muscle function.
Healthcare professionals and the general public interested in health issues.
Proximal weakness.
23%.
Energy conservation techniques.
Werdnig–Hoffman disease.
Histochemical staining.
Corticosteroid Therapy.
Poor head control.
Typically absent.
Lack of reflexes.
Employment/Vocational Training.
Play skills.
A type of congenital muscular dystrophy with joint and muscle involvement.
In early childhood.
Increased insertional activity.
Short duration polyphasic MUP mixed with normal and long duration units.
A mid-nineteenth-century French doctor known for his work on muscular dystrophies.
Yes, there is an unexplained slight male preponderance.
Approximately 1 in 3,500 to 5,000.
Gastric feeding tube.
In a research setting.
Cardiopulmonary functions.
Hypotonia (decreased muscle tone).
Environmental modifications.
It helps improve comfort and function.
Weakness.
Feeding/eating technique.
Hand function training/Splinting.
Chest wall deformity.
Toileting.
It is a specific type of congenital muscular dystrophy.
A type of muscular dystrophy that affects the muscles of the face, shoulder blades, and upper arms.
It varies among different types of muscular dystrophies.
A compound potential generated by the muscle fibers of the motor unit during voluntary activity or electrical stimulation of alpha-motor axons.
Females can be carriers but usually do not exhibit symptoms.
It is crucial for the survival of motor neurons.
Elevated two to four times normal but less than tenfold.
Local electrical stimulation, muscle pathology, locomotor ataxia, and electrophysiological analysis.
Grouped atrophy and angulated fibers.
General Observation and Monitoring.
Deletion or duplication of gene segments.
No staining of dystrophin in the specimen.
Prenatal Diagnosis.
Calcium metabolism.
A severe X-linked myopathy caused by mutation in the dystrophin gene, with symptoms appearing before the age of 6 and rapid disease progression.
Feeding and swallowing.
Fasciculation of tongue and fingers.
Muscle weakness and rigidity of the spine.
A type of muscular dystrophy characterized by prolonged muscle contractions.
It indicates weakness in the proximal muscles, commonly seen in patients with Duchenne Muscular Dystrophy (DMD).
Insights into health services, patient care, or medical advancements.
The first case of pseudohypertrophy myopathy.
DNA test.
Facilitating the use of mobility aids to promote independence.
Increased fatigue.
Scoliosis, kyphosis, contractures, mobility impairment, osteopenia, and fractures.
2/3 of patients.
2%.
To relieve back pain.
Waddling gait.
How to cater multiple muscle groups.
Progressive weakness secondary to degeneration of the lower motor neurons.
Hypotonia.
Symmetrical weakness.
Grooming skills.
Deep tendon reflexes.
Chromosome 5q13.
Proximal weakness of lower and upper limbs.
Scoliosis.
A severe form of congenital muscular dystrophy associated with brain malformations.
A method used by individuals with Duchenne Muscular Dystrophy (DMD) to stand up from a sitting or lying position by using their hands to 'walk' up their legs.
The article discusses a specific health issue or feature related to healthcare.
Defects in genes responsible for the production of muscle proteins, leading to the death of muscle cells and tissue.
1 in 6,000–10,000 live births.
It highlights the importance of awareness and understanding of the condition.
High Serum Creatine Kinase (CK) Level.
Bi-level positive airway pressure machines (BiPAP).
It produces non-functional dystrophin.
45%.
Tracheotomy.
A blood sample.
Increasing fiber and water content.
Enhancing fine motor skills through targeted activities.
Gene Therapy.
It results in reduced levels of SMN protein, leading to SMA.
Surgical correction for scoliosis or deformity.
Detection of homozygous deletion of exon 7 in both alleles of the SMN1 gene by PCR.
By changing food consistency.
CK levels progressively decrease as muscle mass is lost.
A clinical sign observed in DMD patients, indicating muscle weakness.
It is effective for prevention.
Loss of anterior horn cells.
Delayed motor development.
Hypotonia.
Side effects.
‘Frog leg’ posture.
Progressive weakness of lower limbs.
Autosomal recessive.
SMA Type 4.
Highly arched palate.
Respiratory weakness.
Survival Motor Neuron gene (SMN).
By providing adaptive equipment to enhance daily living activities.
It leads to the degeneration of motor neurons, causing muscle weakness.
They are part of the electrophysiological findings.
Proximal muscle weakness.
When CK levels are greater than 5000 units/L along with slow progressive muscle weakness.
In skeletal, cardiac, and smooth muscles, as well as in the brain.
A method used by individuals with DMD to stand up from a sitting position.
By promoting engagement in community activities.
Scoliosis and Contracture.
Severe weakness.
Preventing muscle breakdown.
Wheelchair prescription should be tailored to individual needs.
Muscle repair.
The IQ can be below 75.
They remain ambulatory till late.
Mutation in the dystrophin gene.
Progressive weakness of lower limbs spreading to upper limbs and other body parts.
It leads to delayed motor milestones.
Two copies.
30% (16% type 3a and 14% type 3).
Respiratory muscle weakness.
90% accuracy.
Microdystrophin and minidystrophin genes.
Lightweight orthotics, walking frames, and power wheelchairs.
Myoblast transfer and bone marrow-derived stem cell transfer.
8B61.
It lowers cytotoxic T cells.
They never learn to sit.
Dressing skills.
Joint contracture.
A type of muscular dystrophy characterized by progressive muscle weakness.
Bethlem CMD.
A group of congenital muscular dystrophies affecting muscle, eye, and brain function.
A severe type of muscular dystrophy that primarily affects boys.
A type of muscular dystrophy characterized by muscle weakness and joint contractures.
A type of muscular dystrophy that affects the muscles of the eyes and throat.
