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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease muscular dystrophy
Symptom C0004093|weakness
Sentences 13
PubMedID- 22186027 This study focused on three non-related pediatric patients exhibiting muscle weakness characteristic of muscular dystrophy.
PubMedID- 22255098 The arm is intended for people with neuromuscular weakness due to muscular dystrophy or spinal muscular atrophy.
PubMedID- 24717985 Facioscapulohumeral muscular dystrophy cases with facial weakness before the age of 5 and signs of shoulder weakness by the age of 10 are defined as early onset.
PubMedID- 24119284 Background: although muscle weakness is a hallmark of facioscapulohumeral muscular dystrophy (fshd), the molecular mechanisms that lead to weakness in fshd remain largely unknown.
PubMedID- 23903496 Parkinson's disease, dystonia and neuromuscular diseases (motor neuron disease, myositis and muscular dystrophy) with weakness of the axial muscles may result in bent spine syndrome and is often combined with a dropped head.
PubMedID- 23472962 Background: duchenne muscular dystrophy (dmd) leads to progressive muscular weakness and death, most typically from respiratory complications.
PubMedID- 25312642 Myofiber necrosis and fibrosis are hallmarks of duchenne muscular dystrophy (dmd), leading to lethal weakness of the diaphragm.
PubMedID- 26385658 Background: persons suffering from progressive muscular weakness, like those with duchenne muscular dystrophy (dmd), gradually lose the ability to stand, walk and to use their arms.
PubMedID- 23254335 The classifications of the dysferlinopathies mainly include limb-girdle muscular dystrophy 2b (lgmd2b) with predominantly proximal weakness, miyoshi myopathy (mm) with calf muscle weakness and atrophy, and distal myopathy with anterior tibial onset (dmat) with tibialis muscle atrophy.
PubMedID- 25270028 In 2009, a homozygous mutation was identified in dpm3 in a young woman who presented with muscle weakness due to muscular dystrophy as diagnosed after muscle biopsy and a dilated cardiomyopathy (lefeber et al 2009).
PubMedID- 23453859 Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis.
PubMedID- 21565990 These data indicate that the functional benefits of tat-muutr replacement treatment extend to the mdx:utr(-/-) double-knockout mouse and support its development as a therapy to mitigate muscle weakness in patients with duchenne muscular dystrophy.
PubMedID- 20584890 Mechanisms of muscle weakness in muscular dystrophy.

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