Search results
Results from the WOW.Com Content Network
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.
Gowers's sign is a medical sign that indicates weakness of the proximal muscles, namely those of the lower limb. The sign describes a patient that has to use their hands and arms to "walk" up their own body from a squatting position due to lack of hip and thigh muscle strength. It is named after William Richard Gowers. [1] [2]
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6]
Lower legs are affected first by muscle weakness and atrophy followed by the upper extremities. Type 5 is also associated with visual and hearing loss. HMSN6: Charcot–Marie–Tooth type 6: 32095 (multiple) Early onset muscular weakness and atrophy followed by optic atrophy resulting in vision loss and possibly blindness. HMSN7: HMSN+retinitis ...
Wasting atrophy of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance. Weakness in the hands and forearms occurs in many people as the disease progresses. [10] High-arched feet or flat-arched feet are classically associated with the disorder. [11]
Muscle weakness affecting an arm, leg or the diaphragm Twitching of the muscles in the arms, legs, shoulders or tongue Cramping of the muscles in the hands, feet or limbs
Muscle atrophy Most infants with CMD will display some progressive muscle weakness or muscle wasting ( atrophy ), although there can be different degrees and symptoms of severeness of progression. The weakness is indicated as hypotonia , or lack of muscle tone, which can make an infant seem unstable.
Hirayama disease, also known as monomelic amyotrophy (MMA), [1] [2] is a rare motor neuron disease first described in 1959 in Japan. Its symptoms usually appear about two years after adolescent growth spurt and is significantly more common in males, with an average age of onset between 15 and 25 years.