Cases reported "Muscular Atrophy"

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1/106. Hereditary neuropathy and vocal cord paralysis in a man with childhood diphtheria.

    We present the case of a 37-year-old Afghani man with a history of childhood diphtheria, who was diagnosed with bilateral vocal cord paralysis at age 15 years. At about this time he developed progressive muscular wasting and distally predominant weakness, and subsequently developed respiratory insufficiency, necessitating nocturnal ventilatory support. His examination suggested a distal symmetric sensorimotor neuropathy, and his brother was similarly affected, although to a lesser degree. electromyography (EMG) and nerve conduction studies revealed this process to be purely axonal. A diagnosis of possible hereditary motor and sensory neuropathy (HMSN) type IIc, hereditary axonal polyneuropathy with vocal cord paralysis, is proposed, although the question of early diphtheritic involvement of the vocal cords and peripheral nerves is also considered.
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2/106. Intravenous immunoglobulin therapy for diabetic amyotrophy.

    A 49-year-old woman with diabetes mellitus developed progressive weakness and atrophy of both thighs rendering her wheelchair-bound within two months. The neurological findings and electrophysiological test results were compatible with diabetic amyotrophy (DA). Immediately after intravenous immunoglobulin (IVIg) therapy (20 g x 3 days), she became able to walk with a cane. After the next course of the therapy, she could walk without assistance. This dramatic effect of IVIg therapy together with the recent observation of vasculitic neuropathy in DA indicates an inflammatory process in this condition, and gives support to this treatment for DA.
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ranking = 0.14285714285714
keywords = neuropathy
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3/106. Isolated brachialis wasting: an unusual presentation of neuralgic amyotrophy.

    Although neuralgic amyotrophy can selectively affect discrete components of the brachial plexus including individual peripheral nerves, involvement of an individual nerve fascicle is rare. Discrete fascicular musculocutaneous neuropathy as a manifestation of neuralgic amyotrophy has not previously been reported to our knowledge. We report two cases of otherwise typical neuralgic amyotrophy with isolated brachialis muscle wasting. Abnormal spontaneous activity, motor unit remodeling, or both, was observed only in the brachialis muscle. Lateral antebrachial cutaneous nerve conduction studies were normal. These cases serve to broaden the spectrum of the clinical presentation of neuralgic amyotrophy.
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ranking = 0.14285714285714
keywords = neuropathy
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4/106. Myotonic pupils in charcot-marie-tooth disease. Successful relief of symptoms with 0.025% pilocarpine.

    Twenty-seven members of a family with dominantly inherited charcot-marie-tooth disease (CMTD) were examined. Fifteen members had CMTD and 13 of these had varying amounts of myotonic pupillary abnormalities similar in some ways to Adie tonic pupil syndrome. Those with graver neurologic disease showed greater pupillary abnormalities. Ten of the 15 patients had pupillary constriction with methacholine chloride (Mecholyl) and some of these had extensive iris atrophy. Several affected patients received symptomatic relief from 0.025% pilocarpine. Seven other patients with CMTD who were not related to our initial family were checked for myotonic pupils; two had findings similar to our initial family. Pupillary abnormalities in certain patients with CMTD appear secondary to a parasympathetic denervation of the iris sphincter and ciliary muscle, as shown by a positive methacholine test, and probably represent part of the autonomic nervous system dysfunction associated with the polyneuropathy in CMTD.
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ranking = 0.14285714285714
keywords = neuropathy
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5/106. Acute isolated suprascapular nerve palsy limited to the infraspinatus muscle: a case report.

    Suprascapular nerve palsy resulting in isolated weakness of the infraspinatus muscle is subtle at its onset and must be differentiated from cervical radiculopathy or bone and joint diseases of the shoulder, especially in the presence of pain. The literature suggests an association of cumulative trauma with ganglionic cyst formation and entrapment neuropathy of the suprascapular nerve in the spinoglenoid notch. Here we present clinical, electrodiagnostic, and radiologic features in a young patient who presented with a 2-week history of isolated, painless weakness of the right shoulder. His electromyography showed acute denervation of the right infraspinatus muscle. magnetic resonance imaging revealed a ganglionic cyst in the spinoglenoid fossa and edema in the infraspinatus muscle consistent with denervation. The patient recovered after removal of the cyst.
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ranking = 0.14285714285714
keywords = neuropathy
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6/106. Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association.

    Motor neuropathy with multifocal conduction blocks represents a recently identified autoimmune disorder of the peripheral nerve myelin. association of motor neuropathies or neuronopathies with thyroid disorders, such as hyperthyroidism, hypothyroidism or thyroid neoplasms has been rarely described. We studied a 61-year-old man with a 2-year-history of slowly progressive weakness of the left limbs with atrophy and fasciculations. Nerve conduction velocity studies revealed multifocal motor conduction blocks. serum IgM titer of antibodies against GM1 was elevated (1:1280; n.v. up to 1:640). Thyroid studies were compatible with Hashimoto's thyroiditis. Therapy with high dose intravenous immunoglobulins was followed by a prompt clinical recovery. Then the disease assumed an intravenous immunoglobulins dependent course with a full clinical, but transient, recovery. This is the first observation of an association of multifocal motor neuropathy with high titers of GM1 and Hashimoto's thyroiditis and reinforces the multifocal motor neuropathy autoimmune origin as well as the repeated clinical recoveries after intravenous immunoglobulins. This case also suggests to deeply investigate the thyroid function in patients with multifocal motor neuropathy.
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ranking = 1.1428571428571
keywords = neuropathy
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7/106. Concomitant compression of median and ulnar nerves in a hemophiliac patient: a case report.

    A 15-year-old boy, with a diagnosis of hemophilia a, suffered bleeding into his left forearm 5 months before being admitted to our medical center. His neurological examination revealed a pronounced median neuropathy and a minor ulnar neuropathy on the left side. There was marked muscle atrophy on the thenar side and, to a lesser degree, on the hypothenar side and in the forearm. Electromyographic findings demonstrated an evident, nearly complete, sensorimotor axonal loss in the median nerve. magnetic resonance imaging studies showed atrophy in muscles of the left forearm and median nerve. The patient was diagnosed as having median nerve axonotmesis and ulnar nerve neuropraxia due to compartment syndrome. In hemophiliac patients, frequent single nerve compressions (often involving the femoral nerve) can be seen. However, concomitant median and ulnar nerve injuries with differing severity are rare.
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ranking = 0.28571428571429
keywords = neuropathy
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8/106. Sporadic lower motor neuron disease with adult onset: classification of subtypes.

    The discovery of the genetic basis of hereditary lower motor neuron disease (LMND) and the recognition of multifocal motor neuropathy as a distinct clinical entity necessitate a new classification of LMND. To this end, we studied the clinical and electrophysiological features of 49 patients with sporadic adult-onset LMND in a cross-sectional study. Disease duration was more than 4 years to exclude the majority of patients with amyotrophic lateral sclerosis. Based on the pattern of weakness, we identified three groups: 13 patients with generalized weakness (group 1); eight patients with symmetrical, distal muscle weakness (group 2); and 28 patients with non-generalized asymmetrical weakness of the arms in most patients (group 3). Group 3 could be subdivided into patients with weakness in predominantly the distal (group 3a) or the proximal (group 3b) muscle groups, both with disease progression to adjacent spinal cord segments. Distinctive features of group 1 were an older age at onset, more severe weakness and muscle atrophy, lower reflexes, greater functional impairment, more widespread abnormalities on concentric needle EMG, respiratory insufficiency and serum M-protein. In groups 2 and 3, concentric needle EMG findings also suggested a more widespread disease process. Retrospectively, the prognosis of sporadic adult-onset LMND appears to be favourable, because clinical abnormalities were still confined to one limb in most patients after a median disease duration of 12 years. We propose to classify the patients in the different subgroups as slowly progressive spinal muscular atrophy (group 1), distal spinal muscular atrophy (group 2), segmental distal spinal muscular atrophy (group 3a) and segmental proximal spinal muscular atrophy (group 3b). The described clinical phenotypes may help to distinguish between different LMND forms.
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ranking = 0.14285714285714
keywords = neuropathy
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9/106. Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family.

    A Japanese family is described in which 6 persons showed familial amyloid polyneuropathy (FAP). Mean ages of onset were 38 for 4 males and 54 for 2 females. Three of the 6 became emaciated and died after 4 to 10 years. In 5, muscular weakness and autonomic dysfunction were the initial symptoms followed by sensory disturbances. Amyloidotic cardiomyopathy was present in 3 of the subjects. amyloid deposits showed an immunohistological relation to transthyretin (TTR). Analysis of 1 patient's TTR gene revealed a single base change (A   G) that led to amino acid substitution (Glu42   Gly). This base change produced a new restriction site for endonuclease Cfr13 I in exon 2. Polymorphic analysis of the length of the Cfr13 I-restriction fragment confirmed the base change, and made it possible to detect the mutant TTR Gly42 gene in the FAP subjects. Amino acid sequencing analysis showed a variant of TTR Gly42 in 1 patient's serum.
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ranking = 0.71428571428571
keywords = neuropathy
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10/106. Two cases of suprascapular neuropathy in a family.

    Suprascapular entrapment neuropathy is well known in certain athletes, especially volleyball players. A brother and sister presented with right shoulder pain and wasting of the scapular muscles, particularly the infraspinatus. They had played volleyball for over six years and were forced to retire because of disability. Investigations showed involvement of the rhomboid muscles also, suggesting a probable extension of this syndrome to other nerves in the region such as the dorsal scapular nerve.
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ranking = 0.71428571428571
keywords = neuropathy
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