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Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year. [1]
The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy and/or occupational therapy for remediation.
Bulbar (throat) muscle weakness is a main feature of nemaline myopathy. Individuals with the most severe forms of NM are unable to swallow and receive their nutrition through feeding tubes. Most people with intermediate and mild NM take some or all of their nutrition orally. Bulbar muscle impairment may also lead to difficulty with communication.
Furthermore, muscle biopsy does not reveal any deficiency. [1] Walker–Warburg syndrome at the beginning a progressive weakness and low muscle tone at birth or during early infancy; small muscles; the majority of affected children do not live more than 3 years of age. Eye structure problems are present, with accompanying visual impairment.
Its causes are many and can be divided into conditions that have either true or perceived muscle weakness. True muscle weakness is a primary symptom of a variety of skeletal muscle diseases, including muscular dystrophy and inflammatory myopathy. It occurs in neuromuscular junction disorders, such as myasthenia gravis. Muscle weakness can also ...
The assumed cause of muscle hypertrophy in KDSS is an abnormal metabolism of carbohydrates leading to increased glycogen accumulation and increased mucopolysaccharide deposits in the muscles. [13] Yet another speculation is an excess intra cellular calcium due to ineffective reuptake into the sarcoplasmic reticulum, which causes a sustained ...
The goal of treatment is improvement in activities of daily living and muscle strength. Suppression of immune system activity (immunosuppression) is the treatment strategy. Patients with PM or DM almost always improve to some degree in response to treatment, at least initially, and many recover fully with maintenance therapy.
Myasthenia or myasthaenia (my- from Greek: μυο meaning "muscle" + -asthenia [ἀσθένεια] meaning "weakness"), or simply muscle weakness, is a lack of muscle strength. The causes are many and can be divided into conditions that have either true or perceived muscle weakness. True muscle weakness is a primary symptom of a variety of ...