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It is well known that painful muscle cramps occur frequently in patients with advanced liver cirrhosis (LC). Although many studies discuss the pathophysiological causes of these muscle cramps in various conditions, the results are not clear as far as the cause associated to LC is concerned. In order
Forty-five patients with cisplatin-induced peripheral neuropathy (PN) were evaluated retrospectively after treatment with cumulative doses of cisplatin ranging from 201 to 1952 mg/m2. The patients were followed for up to 23 months (median, 4.5 months), and 32 of them were evaluated more than once.
The characterization of deletions in the SMN gene provides a helpful tool to confirm the diagnosis of spinal muscular atrophy (SMA). However, there may be homozygous deletions of the SMN gene in some unaffected siblings of SMA type II and III patients. We present two SMA families with affected
The authors report two cases of progressive facial hemiatrophy (PFH) associated with cranial nerves hyperexcitability. One of them (Case 1), a 41-year-old-woman noticed a slight atrophy on the left side of her face at age of ten. For the last three months, she has been suffering from fits of
Spinocerebellar ataxia type 7 (SCA 7) is a rare autosomal dominant neurodegenerative disorder (ADCA) caused by expansion of a highly unstable CAG repeat. Clinical features including progressive cerebellar, retinal degeneration and pyramidal signs. We report a patient with SCA 7 diagnosis revealed by
We describe a 34-year-old patient who was admitted with episodic diplopia, ptosis, and swallowing difficulties of 6 months duration. He also had some muscle cramps aggravated by exercise since the age of 20. Bilateral ptosis of the eyelids, normal gaze, rare fasciculations of the tongue, easy
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According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA
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According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA
A 53-year-old man presented mild, but gradually worsening, distal-dominant upper bilateral limbs weakness and muscle cramp in both legs from the age of 30. He had no obvious muscle atrophy during the course of the disease. Muscle biopsy of the right lateral vastus muscle showed myopathic changes
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized clinically by progressive muscle weakness that can occur proximally or distally in either the upper or lower extremities. It includes both upper motor neuron signs (spasticity, hyperreflexia, clonus, and Babinski sign)
The clinical, electrophysiological, radiological and morphological data of 3 members of a family with autosomal dominant distal spinal muscular atrophy (DSMA) are reported. One patient has the clinical picture of peroneal muscular atrophy with atrophic calves. His father and sister suffer from
A description of progressive muscular atrophy, the first item in neuro-muscular nosography, figures in the memoir published by F.A. Aran in 1850. There, all the essential features of the disease can be found: its usual onset at the distal end of the upper limbs, its slowly progressive worsening,
A young man presented with myokymias, cramp-like difficulty in muscle relaxation and peroneal atrophy. EMG studies revealed continuous muscle activity (CMA) manifested as grouped potentials and high frequency discharges. Sensory nerve conduction studies and sural nerve biopsy gave normal results,