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Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII (dHMN8), is a hereditary medical condition characterized by muscle wasting (), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle.
These can cause congenital contractures, including clubfoot, in distal arthrogryposis (DA) syndromes. [27] Clubfoot can also be present in people with genetic conditions such as Loeys–Dietz syndrome and Ehlers–Danlos syndrome. [28] Genetic mapping and the development of models of the disease have improved understanding of developmental ...
Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to perform active extension and flexion in the affected joint or joints. [2] AMC has been divided into three groups: amyoplasia, distal arthrogryposis, and syndromic (is a syndrome or part of a syndrome).
Congenital fiber-type disproportion can cause contractures as well as lordosis or scoliosis. Approximately 30% of people with this disorder have mild to severe respiratory issues due to weakness of breathing muscles. Some people with these breathing issues need noninvasive mechanical ventilation at night and on occasion during the day.
In pathology, a contracture is a shortening of muscles, tendons, skin, and nearby soft tissues that causes the joints to shorten and become very stiff, preventing normal movement. [ 1 ] [ 2 ] A contracture is usually permanent, but less commonly can be temporary (such as in McArdle disease ), [ 3 ] or resolve over time but reoccur later in life ...
Muscle fibrosis and Joint contractures or fixed deformities are cardinal clinical signs of congenital muscular dystrophies. Muscle fibrosis and shortening eventually lead to joint contractures or fixed deformities. They are important to the diagnosis of CMD. However, some patients initially present with joint laxity.
Surgical options could be considered in rare instances, in order to help with joint contractures or scoliosis. [7] Contractures of the legs can be alleviated with heel-cord surgery followed by bracing and regular physical therapy. Repeated surgeries to lengthen the heel cords may be needed as the child grows to adulthood. [4]
Muscle injury (such as a large burn or surgery) can cause muscle contractures as internal scar tissue (adhesions and fibrosis) develops. Repetitive muscle injuries (e.g. sports injuries, major muscle strains) and micro-injuries (e.g. overuse injuries, minor muscle strains) can also cause this. Adhesions and fibrosis are made of dense fibrous ...