A Clinical, Magnetic Resonance Imaging, and Survival Motor Neuron Gene Deletion Study of Hirayama Disease

Misra, Usha Kant; Kalita, Jayantee; Mishra, Vijay Nath; Kesari, Akanchha; Mittal, Balraj

doi:10.1001/archneur.62.1.120

Cited by 58 publications

(52 citation statements)

References 21 publications

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“…7 However, other studies are not confirmatory. 11,13 As these various studies are somewhat incongruent, we elected not to explore a flexion-extension MRI study of the cervical spine in our patient.…”

Section: Discussionmentioning

confidence: 95%

“…Occasionally, patients have wasting of the biceps and deltoid muscles. 7 The brachioradialis muscle is usually spared, giving the impression of an "oblique" atrophy ( Fig. 2).…”

Section: Discussionmentioning

confidence: 99%

“…10 It has been attributed to several factors, including trauma, ischemia, autoimmunity, familial or hereditary factors, toxins, and infection. 5,7 In some patients, MRI studies have documented asymmetric atrophy of the distal cervical spinal cord with epidural venous dilatation. 7,6,12 Japanese investigators have suggested that monomelic amyotrophy may be due to microvascular changes following chronic trauma to the spinal cord during flexion and extension of the neck, especially during adolescence when there is rapid growth.…”

Section: Discussionmentioning

confidence: 99%

“…5,7 In some patients, MRI studies have documented asymmetric atrophy of the distal cervical spinal cord with epidural venous dilatation. 7,6,12 Japanese investigators have suggested that monomelic amyotrophy may be due to microvascular changes following chronic trauma to the spinal cord during flexion and extension of the neck, especially during adolescence when there is rapid growth. 7 A 10-year-old Swiss girl has been reported who presented with a monomelic atrophy and concomitantly had a very peculiar parasomnia.…”

Section: Discussionmentioning

confidence: 99%

“…SMN1 and SMN2 gene deletion studies evaluating the centromeric and telomeric SMN gene deletion have been negative in other patients, as well as our case. 7 Mutations in the gene encoding the copper-zinc superoxide dismutase are found in familial amyotrophic lateral sclerosis (ALS), but these are not present in familial cases of monomelic amyotrophy. 10 This negative finding does not exclude the theory that monomelic amyotrophy is an allelic variant of ALS, as superoxide dismutase mutations in familial ALS account for only about 20% of these rare instances.…”

Section: Discussionmentioning

confidence: 99%

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Late‐onset monomelic amyotrophy in a Caucasian woman

2007

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We describe a 53-year-old Caucasian woman with a 19-year history of an evolving amyotrophy confined to her dominant right arm and hand. Although this atypical case of a late-onset monomelic amyotrophy in some respects mimics Hirayama disease or O'Sullivan-McLeod syndrome, it does not conform precisely with either of those disorders. We compare this individual's difficulties and clinical temporal profile to other disorders considered in the differential diagnoses with regard to her evolving clinical setting.

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Section: Discussionmentioning

confidence: 95%

“…Occasionally, patients have wasting of the biceps and deltoid muscles. 7 The brachioradialis muscle is usually spared, giving the impression of an "oblique" atrophy ( Fig. 2).…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Late‐onset monomelic amyotrophy in a Caucasian woman

2007

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Spinal angiography and epidural venography in juvenile muscular atrophy of the distal arm “Hirayama disease”

et al. 2009

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We studied two 16-year-old males with juvenile muscular atrophy of the distal arm, "Hirayama disease," resulting in asymmetric atrophy and weakness of the distal upper extremities. Pathogenic theories include a compressive myelopathy with or without ischemia, and occasional cases are accounted for by genetic mutations. To specifically address the ischemia hypothesis we performed spinal angiography and epidural venography. Neck flexion during spinal angiography showed a forward shift of a nonoccluded anterior spinal artery without impedance to blood flow. Epidural venography demonstrated engorgement of the posterior epidural venous plexus without obstruction to venous flow. The findings do not support large vessel obstruction as a contributory factor. The Hirayama hypothesis continues to best explain the disease pathogenesis: neck flexion causes tightening of the dura and intramedullary microcirculatory compromise with resultant nerve cell damage. The age-related factor can most likely be accounted for by a growth imbalance between the vertebral column and the cord/dural elements. Resolution of progression is associated with cessation of body growth, after which the symptoms plateau or modestly improve. Muscle Nerve 40: 206-212, 2009.

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