If an internal link intending to refer to a specific person led you to this page, you may wish to change that link by adding the persons given names to the link. Contrast mri may be done to demonstrate findings better but is not essential. Hirayama disease, also termed nonprogressive juvenile spinal muscular atrophy of the distal upper limbs, is a kind of cervical myelopathy related to flexion movements of the neck 16. He was diagnosed with hirayama disease 9 years ago, while there. Hirayama disease in unilateral and bilateral forms3 case. Hirayama disease hd is a rare disease affecting primarily young men in the second to third decades of life. Neurologic examination revealed atrophic changes in thenar, hypothenar muscles, interossei of the hands, muscles of forearm more on right side. Methods and results here, we report a young female patient who developed the first signs. Imaging features in hirayama disease sonwalkar ha, shah rs. Hirayama disease is a form of muscular dystrophy seen in 2nd3rd decade. Hirayama disease hd, also known as juvenile muscular atrophy of the distal upper extremity, was first reported by hirayama et al. The forward displacement of the posterior dura of the lower cervical dural canal during neck flexion has been postulated to lead to lower cervical cord.
With increasing dispersion of these populations this condition is increasingly being encountered internationally. It is usually sporadic, it has an insidious onset and there is a slow progression followed by stabilization in 24 years. However, utility of dti in evaluating the integrity of the spinal. It differs from the other motor neuron diseases because of its nonprogressive nature and pathological findings of focal ischemic changes in the anterior horn. This work is licensed under a volum creative commons. Electrophysiological differences between hirayama disease. Mar 14, 2018 hirayama disease is an initially progressive disease caused by cervical neck flexion compressing the anterior horns of the lower cervical spinal cord. Magnetic resonance imaging in juvenile asymmetric segmental spinal muscular atrophy. Mr diagnosis article pdf available in american journal of neuroradiology 192.
Hirayama disease, also known as juvenile muscular atrophy of distal upper extremity, is a benign, uncommon disease predominantly seen in young men of southeast asian descent1 it often presents with insidious onset of muscular atrophy of the hands and forearms. Hirayamas disease hd is the eponym which continues to be used to identify a rare condition frequently reported in asia, most in japan and india, and rarely referred among westerners. Hirayama disease with proximal involvement hirayama disease is a slowly progressing benign motor neuron disease that affects the distal upper limb. Oct 16, 2014 hirayama disease hd, amyotrophic lateral sclerosis als or cervical spondylotic amyotrophy csa may result in atrophy of intrinsic hand and forearm muscles.
Hirayamas disease is a benign juvenile form of focal amyotrophy affecting the upper limbs. Hirayamas disease hd, also known as monomelicamyotrophy of distal upper limb, is characterized by pure distal motor atrophy of the upper limbs, affecting young men, in the muscles that are innervated by c7, c8 and t1 segments 14. Hirayama disease juvenile muscular atrophy of distal upper extremity is a cervical myelopathy. This study therefore evaluates the effect of neck flexion in hd using somatosensory evoked potentials seps, f waves, and magnetic resonance imaging mri. A clinical, magnetic resonance imaging, and survival motor neuron gene deletion study of hirayama disease. Hirayama disease, also known as monomelic amyotrophy or benign focal amyotrophy, is a rare disease affecting primarily males of southeast asian decent in their second to third decades.
We report clinical and magnetic resonance imaging findings in nine patients with hirayamas disease. Hirayamas disease affects mainly younger males who are between the ages of fifteen and twentyfive years of age, mostly in the nations of india and japan. Imaging features in hirayama disease hemant a sonwalkar 1, rakesh s shah 2, firosh k khan 2, arun k gupta 1, narendra k bodhey 1, surjith vottath 1, sukalyan purkayastha 1 1 department of imaging sciences and interventional radiology, sree chitra tirunal institute for medical sciences and technology, trivandrum, kerala, india 2 department of neurology, sree chitra tirunal institute for medical. Consequently, hd is often misdiagnosed as als or csa. Mr imaging of the cervical cord in juvenile amyotrophy of distal upper extremity. The objective of the present study was to study the utility of mr imaging in young patients presenting with weakness and wasting of the. Hirayama disease is an initially progressive disease caused by cervical neck flexion compressing the anterior horns of the lower cervical spinal cord. Amyotrophic lateral sclerosis is very unlikely to happen in your sons age, hirayama disease is a condition that may be diagnosed at that age, however, i need to ask you for more information about your sons condition such detailed description of symptoms and signs duration, distribution, relieving and worsening factors etc. Hirayama disease juvenile muscular atrophy of distal upper extremity is a cervical myelopathy predominantly affecting adolescent males. Dynamic flexion mri showed the cervical cord to be displaced anteriorly and compressed over the posterior surface of the c 56 vertebral bodies with a prominent crescent shaped epidural mass with flow voids c. Jul 05, 2017 the symptoms of hirayama s disease as a whole, like the muscular atrophy associated with the disease, progress for a period of time, reaching a plateau, and then remain stable for many years after that point. What if everything you learned about cholesterol was a lie.
Mar 01, 2004 forward shifting of posterior dural sac during flexion cervical magnetic resonance imaging in hirayama disease. Clinical dilemma solved by imaging shalabh jain, 1 siddharth yadav, 2 swarna gupta, 1 and ritu gupta 3 1 d e p a r t m e n to fr a d i o d i a g n o s i s,v m m ca n ds. The objective of the present study was to study the utility of mr imaging in young patients presenting with weakness and wasting of the distal upper. Eight hd patients and seven matched controls were subjected to. The clinical features include insidious onset, predominantly unilateral upper extremity weakness and atrophy, cold paresis, and no sensory or pyramidal tract involvement. Hirayama disease, also termed nonprogressive juvenile spinal muscular atrophy of the distal upper limbs, is a type of cervical myelopathy related to flexion movements of the neck. Hirayama disease, a type of cervical flexion myelopathy, is a rare neurological disease characterized by muscular atrophy of the forearms and hands. Having been tested for two months they concluded that is hirayama disease. Hirayama s disease hd is the eponym which continues to be used to identify a rare condition frequently reported in asia, most in japan and india, and rarely referred among westerners. Clinical and radiological profile of hirayama disease.
Objectives hirayama disease is a rare myelopathy, occurring predominantly in males with onset in the teens. This benign focal cervical poliopathy is believed to be caused by forward displacement of the posterior cervical dural sac. Hirayamas disease, also referred to as monomelic amyotrophy, mms, sobue disease, or juvenile nonprogressive amyotrophy, is an untreatable, focal, lower motor neuron disease. Predominant proximal upper extremity involvement in. Hirayamas disease hd, is a benign, selflimited, motor neuron disease, characterized by asymmetric weakness and atrophy of one or both distal upper extremities. Nonprogressive juvenile spinal muscular atrophy of the. Magnetic resonance imaging of muscle injury and atrophy in glycolytic myopathies. It is considered a benign motor neuron disorder with a stationary stage after a progressive course. Hirayama s disease affects mainly younger males who are between the ages of fifteen and twentyfive years of age, mostly in the nations of india and japan. Discussion is disease was initially recognized in japan in by hirayama et al. Specifically, monomelic amyotrophy causes weakness and loss of muscle mass in the arms.
Hirayama disease, also known as juvenile muscular atrophy of distal upper extremity, is a benign, uncommon disease predominantly seen in young men of southeast asian descent1 it often presents with insidious onset of muscular atrophy of the hands and forearms, and generally spares the brachioradialis1. Role of dynamic mri study in hirayama disease parihar a. Hirayama disease mri an 18 yo male with 4 year history of slowly progressive weakness of forearms and hand marked on right side. Hirayama is a rare disease of the young where early diagnosis and treatment prevents the progression of disease. Hirayama disease, motor neuron disease, electromyography, late onset. I have been suffering from hirayama disease since 2014.
We report a case of an 18yearmale painter, who presented with gradually progressive, symmetrical bilateral weakness of hands and. Flexion mri magnetic resonance imaging forms the main stay for diagnosis of this condition. Muscular weakness and wasting of hand and forearm oblique amyotrophy. It differs from the other motor neuron diseases because of its nonprogressive nature and pathological findings of focal ischemic changes in the anterior horn cells of the localized lower. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement skeletal muscles. An initial study on normal subjects compared to patients with hirayama disease european journal of radiology, vol. Feb 08, 2018 monomelic amyotrophy mma is a rare disease that causes muscle weakness in the upper extremities. Pure motor focal amyotrophy in distribution of c7,8,t1 spinal segments sporadic, men, second and early third decade. Hirayama s disease, also referred to as monomelic amyotrophy, mms, sobue disease, or juvenile nonprogressive amyotrophy, is an untreatable, focal, lower motor neuron disease. When it is seen, a flexion mr study is warranted to prove this diagnosis. It is primarily seen in young males of indian or asian descent.
Dynamic post contrast mri evaluation of cervicothoracic spine is a helpful method in arriving at the correct diagnosis of hirayama disease and should be an essential part of the protocol in cases with high suspicion of motor neuron disease. Severe cervical flexion myelopathy with long tract signs. Monomelic amyotrophy mma is a rare disease that causes muscle weakness in the upper extremities. Predominantly affecting male adolescents, it is characterized by progressive muscular weakness and atrophy of distal upper limbs, followed by spontaneous arrest within several years. Imaging features in hirayama disease, sonwalkar ha, shah. It is important to differentiate these diseases because hd is caused by a benign focal lesion that. A high index of suspicion is required when imaging the spine in neutral position and can be confirmed with dynamic mri in neck flexion and use of new sequences like t2space which should be an essential part of mri protocol. Participation eligibility participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. It is thought to be due to disproportionate growth between canal contents and bony spinal canal resulting in a lax dura in extension and vice versa.
Flexion myelopathy is one of the suggested mechanism for hirayama disease hd but simultaneous radiological and neurophysiological evaluation is lacking. The importance of flexion mri in hirayama disease with. It is characterized by progressive muscular weakness and atrophy of unilateral or asymmetrically bilateral distal upper limbs. Hirayama disease is a monomyelic variant of motor neuron disease mnd and has distinctive features of male predominance, asymmetric involvement of upper extremities with a self limiting course. Although the cause of cervical myelopathy remains unclear, neuropathologic and neuroradiologic. Cervical imaging of seven patients revealed spinal cord changes consisting of focal atrophy and foci. The dynamic flexion mri findings confirmed the clinical diagnosis of hirayama disease. Nov 14, 2012 hirayama disease mri an 18 yo male with 4 year history of slowly progressive weakness of forearms and hand marked on right side. According to the first published autopsy report, 2 the cervical spinal cord lesions were not typical of a motor neuron disease, but rather suggested ischaemic necrosis in. Hirayama disease occurs mainly in young males between the ages of 15 and 25 years. In 2015 i have consulted the doctors at nimhans bangalore.
Imaging features in hirayama disease, sonwalkar ha, shah rs. Previous studies have suggested that the disorder is a neck flexion induced cervical myelopathy. The purpose of this study is to determine the longterm progression and outcomes in patients who have the diagnosis of hirayama disease. Hirayama disease is a benign focal amyotrophy of the distal upper limbs involving c7, c8, and t1 segmental myotomes with sparing of the brachioradialis and proximal muscles of the upper limb innervated by c56 myotomes. Hirayama disease was first defined in japanese in 1959, and in english in 1963, 1 as unilateral focal amyotrophy of one of the upper limbs. Cervical spine mr imaging findings of patients with hirayama disease in north america. Nov 03, 2015 amyotrophic lateral sclerosis is very unlikely to happen in your sons age, hirayama disease is a condition that may be diagnosed at that age, however, i need to ask you for more information about your sons condition such detailed description of symptoms and signs duration, distribution, relieving and worsening factors etc.
The incidence of hd is low, and it is rarely encountered in the clinical setting. A 29yearold man visited the hospital with a 1year history of weakened left proximal upper limb. Predominant proximal upper extremity involvement in hirayama. Effect of neck flexion on f wave, somatosensory evoked. Hirayama disease is a nonprogressive asymmetric juvenile muscular atrophy involving c7t1 myotomes leading to weakness and atrophy of intrinsic muscles of hand and forearm with relative sparing of the brachioradialis muscle. Most studies of hd have been conducted in asia, particularly japan. Monomelic amyotrophy mma, is a rare motor neuron disease first described in 1959 in japan. Aug 06, 2011 hirayama disease occurs mainly in young males between the ages of 15 and 25 years. Its symptoms usually appear about two years after adolescent growth spurt and is significantly more common in males average age of onset, 15 to 25yearold. Introduction hirayama disease hd, also known as monomelic amyotrophy mma was first reported by hirayama et al. Clinical features of hirayama disease in mainland china. Cervical spine mr imaging findings of patients with. Hirayama disease, also known as monomelic amyotrophy mma, is a rare cervical myelopathy that manifests itself as a selflimited, asymmetrical, slowly progressive atrophic weakness of the forearms and hands predominantly in young males. The symptoms of hirayamas disease as a whole, like the muscular atrophy associated with the disease, progress for a period of time, reaching a plateau, and then remain stable for many years after that point.
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