Juvenile type of distal and segmental muscular atrophy of upper extremities

Sobue, I; Sakai, Noboru; Iida, Madoka; Ando, Kei

doi:10.1002/ana.410030512

Cited by 146 publications

(86 citation statements)

References 5 publications

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“…More prominent surface d istortion of th e spin al co rd is prevented by reac ti ve gli osis occurring within degenerated co rti cosp in al tracts [1 3). ln our study , three patients who presented with a " monomelic" distal musc ul ar atroph y of on e hand , as described by Sobue et al [14), unexpectedl y showed an ipsil ateral fl attening of th e anterolateral funi culus ( fig. 2A) , probabl y reflecting an underl yin g degenerati on of th e anteri or horn ce ll s. Th e combin ed anteri or and posteri or fl attening in amyotrophi c lateral sclerosis ( fig .…”

Section: Discussionsupporting

confidence: 59%

Patterns of Spinal Cord Atrophy on Metrizamide Ct

Mawad¹,

Hilal²,

Fetell³

et al. 1983

Journal of Computer Assisted Tomography

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Forty patients with cervical myelopathy underwent high-resolution computed tomography (CT) with intrathecal administration of metrizamide for evaluation of cervical spinal cord atrophy. Thirty of them showed evidence of either focal atrophic distortion or generalized accentuation of the anatomic surface features of the spinal cord. Patients with a Chiari malformation or syringomyelia were excluded. The characteristic features in cervical spondylosis and canal deformity include flattening of the ventral surface of the cord, central infolding, beaking of the lateral funiculi, and wasting of the dorsal surface of the cord. Patients with motor neuron disease showed a combination of anterolateral and posterolateral atrophy reflecting underlying degeneration of the anterior horn cells and / or corticospinal tracts, respectively. Those with monomelic motor neuron disease had a striking ipsilateral hemiatrophy of the spinal cord. Among those presenting with spastic paraparesis, seven with clinically definite multiple sclerosis showed diffuse atrophy or focal degeneration due to a localized plaque of demyelination. Two cases of cord neoplasm showed atrophy secondary to ascending or descending degeneration of the long tracts.High-resolution computed tomography (CT) with intrathecal metrizamide as a contrast agent has become an increasingly reliable tool in the diagnosis of spinal cord disease. While enlargement of the spinal cord secondary to a neoplasm or syrinx is readily recognizable on iophendylate or air myelography, conventional myelography is misleading in cases of spinal co rd atrophy. Routine myelographic imaging relies on two perpendicular projections of the spinal canal and its contents, while metrizamide CT produces a clear, nonsuperimposed cross-sectional image of the bony canal , the dural sac opacified with metrizamide , and th e spinal co rd. Metrizamide opacifies the subarachnoid space and fills the fissures and sulci on the surface of the cord , enabling early detection of subtle anatomic deformity and distortion . It is possible with metrizamide CT to detect cord atrophy with preservation of one or both of the sagittal and transverse diameters . We have found it an excellent method for studying subtle deformities of the spinal cord in vivo without the interference of fi xation artifacts such as are encountered in postmortem studies. Subjects and MethodsForty patients wi th cervica l myelopathy were studi ed with metrizamide CT at our in stituti on during an 18 month period . Fourteen of th em had spond y lotic mye lopathy w ith mye log raphic evid ence of co rd co mpression or spin al ca nal deformil y. El even pati en ts had upper or lower motor neuron disease diagnosed c linicall y and co nfirmed by elec tro myog raphy. El even presented w ith spastic paraparesis or quad rip aresis; seven of th ese had c linica ll y definite multiple sc lerosis with oli goc lonal bands in th e cereb rospin al flui d, wh il e th e other four had probable multiple sclerosis. The seri es also in c lu ded two cases of co ...

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Section: Discussionsupporting

confidence: 59%

Patterns of Spinal Cord Atrophy on Metrizamide Ct

Mawad¹,

Hilal²,

Fetell³

et al. 1983

Journal of Computer Assisted Tomography

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“…Ouremphasiswas on dynamicrather than static factors as the basis for the disease. It has been speculated that disproportionate development of the bony spinal canal and spinal cord causes "over-stretching" of the cervical cord in this condition (3,4). However, in our case of an adult whowas fully grownwhenthe disease manifested itself, the cause of detachment of the dural tube from the spinal canal resulting in the development of an abnormal epidural space (due to communication with the subarachnoid space) is unknown.The shifting of this cavity forward could have caused spinal cord compression by the same mechanismas described above.…”

Section: Discussionmentioning

confidence: 71%

“…Though disproportionate growth of the spinal column, spinal cord, and dural tube was thought to be the most direct cause of the symptomsof Hirayama's disease, our patient had already reached his full height and as such, his symptomswere unlikely to have been due to a developmental disorder. Wepreviously introduced the term "flexion myelopathy and tight dural canal in flexion" (3,4) to refer to all myelopathies caused by constant pressure on the cervical cord as a result of neck flexion. Ouremphasiswas on dynamicrather than static factors as the basis for the disease.…”

Section: Discussionmentioning

confidence: 99%

“…In patients with this condition, the lower cervical spinal cord movesforward and becomesflattened against the posterior surface of the vertebrae when the neck is flexed. Additionally, the posterior wall of the dural canal also shifts forward causing further compression of the cervical cord from the back, resulting in a condition referred to as a "tight dural canal in flexion" (3,4). Weherein report several atypical features in a patient with Hirayama's disease.…”

Section: Introductionmentioning

confidence: 99%

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Cervical Myelopathy due to a "Tight Dural Canal in Flexion" with a Posterior Epidural Cavity.

et al. 2002

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A 41-year-old man noticed weakness and atrophy in his right hand and forearm resembling the non-progressive juvenile muscular atrophy of unilateral upper extremity (Hirayama's disease). MRI showed an abnormal cavity in the posterior epidural space which appeared on neck flexion communicatingwith the subarachnoid space in addition to the flattening of the lower cervical spinal cord on neck flexion. Whenevaluating atypical cases of Hirayama's disease, the pathomechanismdemonstrated in the present case should be taken into consideration. (Internal Medicine 41 : 746-748, 2002)

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“…Currently, the pathophysiology of MA is not well understood but various possibilities have been considered, including autoimmune and genetic factors, and ischemic changes of the spinal cord induced by neck flexion (Nalini et al, 2004). Rare familial cases have suggested the possibility of either autosomal-recessive or autosomal-dominant inheritance patterns in different families (Nalini et al, 2004;Schlegel et al, 1987;Sobue et al, 1978). In the few previous genetic association studies, the role of deletions in SMN1 and SMN2 genes was excluded (Di Guglielmo et al, 1996;Gamez et al, 2007;Misra et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

Association of the X-linked Androgen Receptor Leu57Gln Polymorphism with Monomelic Amyotrophy

Park¹,

Lim²,

Kim³

et al. 2011

Genomics & Informatics

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Monomelic amyotrophy (MA), also known as Hirayama disease, occurs mainly in young men and manifests as weakness and wasting of the muscles of the distal upper limbs. Here, we sought to identify a genetic basis for MA. Given the predominance of MA in males, we focused on candidate neurological disease genes located on the X chromosome, selecting two X-linked candidate genes, androgen receptor (AR ) and ubiquitin-like modifier activating enzyme 1 (UBA1 ). Screening for genetic variants using patients' genomic DNA revealed three known genetic variants in the coding region of the AR gene: one nonsynonymous single-nucleotide polymorphism (SNP; rs78686797) encoding Leu57Gln, and two variants of polymorphic trinucleotide repeat segments that encode polyglutamine (CAG repeat; rs5902610) and polyglycine (GGC repeat; rs3138869) tracts. Notably, the Leu57Gln polymorphism was found in two patients with MA from 24 MA patients, whereas no variants were found in 142 healthy male controls. However, the numbers of CAG and GGC repeats in the AR gene were within the normal range. These data suggest that the Leu57Gln polymorphism encoded by the X-linked AR gene may contribute to the development of MA.

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Juvenile type of distal and segmental muscular atrophy of upper extremities

Cited by 146 publications

References 5 publications

Patterns of Spinal Cord Atrophy on Metrizamide Ct

Patterns of Spinal Cord Atrophy on Metrizamide Ct

Cervical Myelopathy due to a "Tight Dural Canal in Flexion" with a Posterior Epidural Cavity.

Association of the X-linked Androgen Receptor Leu57Gln Polymorphism with Monomelic Amyotrophy

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