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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cone rod dystrophy
Comorbidity C0026846|muscle atrophy
Sentences 9
PubMedID- 26469273 The pathological hallmarks are spinal motor neuron loss and proximal axonopathy predominantly in the cervical cord, leading to denervation muscle atrophy in the forelimb [9].
PubMedID- 24498056 Amyotrophic lateral sclerosis or lou gehrig’s disease is a devastating illness affecting motor neurons in the motor cortex, brain stem and spinal cord, leading to axon degeneration, muscle atrophy, paralysis and ultimately death of the patient.
PubMedID- 24550780 Amyotrophic lateral sclerosis (als) is a neurodegenerative disease affecting upper and lower motor neurons in the brain and spinal cord, damage which leads to progressive muscle atrophy, paralysis and death typically within three to five years from diagnosis (rowland and shneider, 2001).
PubMedID- 25319671 Lower motor neurons in the anterior horns of the spinal cord progressively degenerate, leading to muscle atrophy, paralysis and often fatal respiratory failure [5].
PubMedID- 25801509 Based on clinical examinations and the pathological analyses of end-stage specimens, sma historically has been described as a lower motor neuron (mn) disease characterized by the degeneration of the anterior horn cells of the spinal cord, which subsequently leads to skeletal muscle atrophy and weakness (dubowitz, 2009).
PubMedID- 23186722 Amyotrophic lateral sclerosis (als) is a devastating incurable, neurodegenerative disease that targets motor neurons (mns) in the primary motor cortex, brainstem, and spinal cord, leading to muscle atrophy, paralysis, and death due to respiratory failure within 2-5 years.
PubMedID- 23876144 Sma is characterized by loss of motor neurons in the ventral horn of the spinal cord, leading to weakness and muscle atrophy.
PubMedID- 22182976 Our results demonstrate that disuse muscle atrophy within the context of spinal cord injury exacerbates motor neuronal degeneration in caudal regions remote from the injury.
PubMedID- 24399112 Purpose: muscle paralysis after spinal cord injury leads to muscle atrophy, enhanced muscle fatigue, and increased energy demands for functional activities.

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