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Diagnosis is frequently known from genetic testing of the autosomal-dominant characteristic clinical history of distal weakness and absent reflexes beginning in the second decade.
On examination she had wasting and predominantly distal weakness in the lower limbs with upper limb fasciculations.
Muscle cramps and mild distal weakness are frequently seen.
He had mild atrophy and distal weakness of both upper and lower limbs and demonstrated bradykinesia.
Distal weakness first appears and is usually identified after 9 to 10 years' duration of the illness.
In most cases, CMT4H is characterized by a slowly progressive neuropathy with increasing distal sensory loss and distal weakness.
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Presently she presents severe muscle hypotrophy and proximal-distal weakness leading to loss of ambulation in 2006 and severe lumbar hyperlordosis (FSHD score 12 according to Lamperti et al. [ 5]).
High foot arches, distal motor weakness and atrophy, and reduced reflexes are the main symptoms; sometimes the nerves are greatly thickened.
GNE myopathy or hereditary inclusion body myopathy (HIBM) is an autosomal recessive myopathy presenting with distal leg weakness in early adulthood.
Distal muscle weakness appears to affect both postural stabilization and quiet erect posture.
Myotonia was the most frequent symptom at onset (about 70%), followed by distal muscle weakness (56%).
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