Highlights
- •Compression of the cervical cord in flexion is characteristic of Hirayama disease.
- •The prognostic value of spinal MRI in progressive disease was evaluated.
- •Seven of 8 patients with progressive disease had typical MRI changes.
- •The patient without typical MRI changes eventually developed ALS.
- •MRI may be useful in predicting Hirayama disease vs progression to ALS.
Abstract
Background
The syndrome of isolated progressive upper-limb distal weakness and atrophy results
from disease processes affecting lower motor neurons originating in the cervical anterior
horn gray matter. Lower motor neuron dysfunction restricted to the C7–T1 myotomes
in the absence of neuropathy, upper motor neuron signs, sphincter disturbances or
abnormality on conventional MR imaging is suggestive of either Hirayama disease (HD),
or the initial manifestation of a progressive motor neuron disease such as amyotrophic
lateral sclerosis (ALS). In HD the supposed etiologic mechanism is a mechanical compression
of the cervical spinal cord during neck flexion; therefore, dynamic MRI (dMRI) of
the cervical cord might help differentiate between these possibilities.
Methods
This was a multi-center observational cohort study. Over a 4-year period between 8/2009
and 8/2013, 22 patients were identified as having a disease consistent with HD. We
identified a subgroup of patients suspected of suffering from active progressive disease
and prospectively followed them after performing dynamic MRI studies of the cervical
spine.
Results
Twenty-two patients were identified as having a disease consistent with HD, of whom
8 were defined as having actively progressive disease. Seven of these 8 patients demonstrated
clear dynamic compression of the cervical spine during neck flexion. The patient who
did not demonstrate the typical MRI changes associated with HD went on to develop
generalized ALS.
Conclusions
dMRI has a practical role in patients presenting with progressive upper-limb distal
weakness and atrophy, and the presence of characteristic changes typical of HD may
suggest a more optimistic prognosis.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Journal of the Neurological SciencesAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Juvenile muscular atrophy of distal upper extremity (Hirayama disease).Intern Med. 2000; 39: 283-290
- Brachial amyotrophic diplegia: a slowly progressive motor neuron disorder.Neurology. 1999; 53: 1071-1076
- Progressive muscular atrophy and other lower motor neuron syndromes of adults.Muscle Nerve. 2010; 41: 161-165
- Hirayama disease: MR diagnosis.AJNR Am J Neuroradiol. 1998; 19: 365-368
- Clinical and radiological profile of Hirayama disease: a flexion myelopathy due to tight cervical dural canal amenable to collar therapy.Ann Indian Acad Neurol. 2012; 15: 106
- Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper extremity.Neurology. 2000; 54: 1922-1926
- Forward shifting of posterior dural sac during flexion cervical magnetic resonance imaging in Hirayama disease: an initial study on normal subjects compared to patients with Hirayama disease.Eur J Radiol. 2011; 80: 724-728
- Magnetic resonance imaging in juvenile asymmetric segmental spinal muscular atrophy.J Neurol Sci. 1997; 146: 133-138
- Juvenile asymmetric segmental spinal muscular atrophy (Hirayama's disease).Acta Neurol Scand. 2003; 107: 74-75
- Effect of neck flexion on somatosensory and motor evoked potentials in Hirayama disease.J Neurol Sci. 2013; 334: 102-105
- Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease.Amyotroph Lateral Scler. 2010; 11: 237-239
- El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis.Amyotroph Lateral Scler Other Motor Neuron Disord. 2000; 1: 293-299
- Cervical spine MR imaging findings of patients with Hirayama disease in North America: a multisite study.AJNR Am J Neuroradiol. 2013; 34: 451-456
Article info
Publication history
Published online: July 18, 2014
Accepted:
July 14,
2014
Received in revised form:
July 11,
2014
Received:
April 9,
2014
Footnotes
☆This research was performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.
☆☆We confirm that the man who appears in Fig. 2 has given written consent to publishing these images after reviewing and approving them.
Identification
Copyright
© 2014 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
