ASK A PHYSICAL THERAPIST
- 09 Nov - 15 Nov, 2024
Q: My 9 year old son has congenital myopathy, kindly guide regarding physiotherapy.
A: Congenital myopathies are a heterogeneous group of rare disorders that present at birth. This term denotes an even more heterogeneous group of inherited, primary muscle disorders characterized by varying degrees of motor delay, coordination problems and facial weakness. Orthopedic considerations: Lower extremity skeletal alignment (e.g. windswept deformities), foot deformities Distal joint contractures Hip dysplasia Scoliosis Presentation in infancy is typically with hypotonia and weakness at birth or during the neonatal period, but some cases present with delayed motor development in childhood. The type and onset of symptoms differs widely from one person with PPP1R13L deficiency to another, even among family members with the same underlying genetic change; some may have mild symptoms whereas others have quite severe disease and start accumulating problems already at birth, while others develop more slowly throughout early infancy or childhood.
For most cases of congenital myopathy the first line of treatment consists of physical and occupational therapy as main approach. The main goal of the physical therapy process is to maintain daily activities of human life and to try that the patient can perform its daily functions freely with no or minimal support. Every patient visit includes evaluation and treatment of the chief complaints, as well as testing for muscle function assessments, contractures, and Activities of Daily Living. These assessments determine the goals of long-term management.
Treatment includes stretching and bracing such as that seen with contractures or foot deformities. Physical therapy exercises early in the game focus on increasing joint flexibility and strengthening core muscles. Muscle weakness is treated with stretching, bracing and support care. Some cases; however, may be contraindicated as immobility can lead to more muscle weakening. When weakness begins to interfere with everyday activities, assistive devices which may appear necessary become helpful.
Scoliosis is also screened for in patients with congenital myopathy, as it may cause increased stress on their weakened respiratory system as well. The respiratory muscle is an essential aspect of maintaining normal breathing. Exercises are eye based and for getting a grip on balance and make it perfect in eye-hand coordination and feel the Charcoal concept using hands( fine skills). GENERAL MANAGEMENT: Congenital myopathy is managed based on clinical severity and functional needs.
Q: Doctor, my mother experienced a stroke, and as a result, she is now dealing with a mild shoulder subluxation. Could you please provide guidance on this condition?
A: Shoulder subluxation, also referred to as Glenohumeral subluxation (GHS), is a common issue that affects up to 80% of individuals following a stroke. During the initial post-stroke period, the arm on the affected side is often weak or hypotonic, making it difficult for the shoulder muscles to properly stabilize the humeral head in the glenoid socket. This situation significantly raises the risk of shoulder subluxation. Proper support is essential during this phase, as the weight of the arm alone can contribute to subluxation. Moreover, incorrect sleeping positions, lack of support in upright positions, and stress on the affected arm during movement can also lead to Glenohumeral subluxation.
It is crucial to educate caregivers, healthcare providers, and family members on the correct handling of the affected arm. Stroke patients whose arms are not supported or are handled improperly, such as through pulling, are at a higher risk of nerve damage and injury. Therefore, caregivers of stroke survivors are trained to manage the weak arm, especially in the presence of shoulder subluxation. Temporary relief from subluxation can be achieved by using shoulder support or orthoses.
Various aids, such as lap trays, pillows, and foam supports, are helpful in maintaining the proper arm and shoulder position. Correct positioning helps reduce strain on ligaments and prevents the development of a frozen shoulder. While the use of slings has been considered problematic due to potential issues, shoulder strapping has been found to be beneficial in the early stages following a stroke. Different techniques, including transcutaneous electrical nerve stimulation (TENS) for pain relief, may be utilized.
During the early rehabilitation phase, passive range of motion exercises have been shown to be effective in preventing shoulder subluxation in stroke patients. These exercises involve movements like flexion-extension, abduction-adduction, and external-internal rotation of the shoulder joint.
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