... unknown how mutations in the MYH7 gene cause progressive muscle weakness in people with Laing distal myopathy. Researchers have proposed that these mutations alter ...

... include delays in learning to walk and talk, progressive weakness and spasticity of the leg muscles, muscle wasting in the hands and feet (distal amyotrophy), and short stature. Affected individuals may also ...

Distal hereditary motor neuropathy, ... over time. Distal hereditary motor neuropathy, type II weakness primarily affects ...

... to muscles away from the body's center (distal). The muscle weakness usually worsens ... myoclonic epilepsy, spinal muscular atrophy with lower extremity ...

... alpha-motor neurons leads to breathing problems and progressive muscle weakness in children with SMARD1.Research suggests that the ... international workshop: Spinal muscular atrophy with respiratory distress/distal spinal ... available. Citation on PubMed

... how a shortage of sialic acid leads to progressive muscle weakness in people with GNE myopathy. Sialic acid is ...

... and symptoms of the condition. Hereditary myoclonus with progressive distal muscular atrophy Jankovic-Rivera syndrome SMA-PME SMAPME Genetic Testing Registry: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinal muscular atrophy-progressive myoclonic ...

... recessive, with progressive nerve deafness Renal tubular acidosis, distal, with progressive nerve deafness RTA with progressive nerve deafness Genetic ...

... begins in adulthood.Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle ...

... areflexia) and weak muscle tone (hypotonia). They experience muscle wasting (amyotrophy), severe progressive weakness and loss of sensation in the limbs, and ...