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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 16  |  Issue : 1  |  Page : 37-40

Physiotherapeutic management of hirayama disease: A case report


1 Department of Physiotherapy, Apollo Institute of Medical Sciences and Research, Hyderabad, Telangana, India
2 Department of Physiotherapy, National Institute for Locomotor Disabilities, Kolkata, West Bengal, India
3 Department of Surgical Disciplines, All India Institute of Medical Sciences, New Delhi, India

Date of Submission18-May-2022
Date of Decision15-Jun-2022
Date of Acceptance16-Jun-2022
Date of Web Publication22-Jul-2022

Correspondence Address:
Anil Kumar Oraon
Jr. Physiotherapist, Department of Surgical Disciplines, AIIMS, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/pjiap.pjiap_10_22

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  Abstract 


Hirayama disease (HD) is a rare condition which is also known as juvenile muscular atrophy of distal upper extremities (JMADUE). The case study of a 22-year-old man is presented who reported weakness in his distal upper extremities and many of his clinical presentation, electrophysiological, and neuroimaging findings were consistent with HD. The purpose of this case study was to present a detailed assessment and evaluation of this rare disease and also to formulate a general physiotherapeutic intervention. Neurological examination demonstrated moderate-to-severe atrophy of distal muscles, preserved reflexes, and normal sensation in his both upper limbs. Electrophysiological studies revealed neurogenic changes in the muscles innervated by the lower cervical spinal cord. Magnetic resonance imaging showed atrophy of the midcervical cord with high signal intensity in the anterior horn cell region. These examination and investigation findings were compatible with the diagnosis of JMADUE also known as HD. A physiotherapeutic regimen of 6 weeks, consisting of strengthening exercises for the upper limbs and neck muscles, and the postural correction was carried out. Grip strength was measured by Jamar handheld dynamometer and functional disability by the disabilities of arm, shoulder, and hand (DASH) questionnaire. After 6 weeks of intervention, improvement in grip strength (left side 20.2 lbs to 25.6 lbs and right side 35.7 to 38.6 lbs) and many of his activities of daily life were noted along with DASH score (left side 90/125 to 76/125 and right side 55/125 to 30/125). HD is a self-limiting disorder and there is no definitive treatment. Physiotherapy helps in preventing complications resulting from immobility such as joint stiffness and muscle wasting. A general strengthening exercise program can limit the disorder and improves the quality of life.

Keywords: Cervical myelopathy, electromyography, magnetic resonance imaging, monomelic amyotrophy, neural conduction


How to cite this article:
Patel L, Sarkar B, Oraon AK. Physiotherapeutic management of hirayama disease: A case report. Physiother - J Indian Assoc Physiother 2022;16:37-40

How to cite this URL:
Patel L, Sarkar B, Oraon AK. Physiotherapeutic management of hirayama disease: A case report. Physiother - J Indian Assoc Physiother [serial online] 2022 [cited 2022 Aug 20];16:37-40. Available from: https://www.pjiap.org/text.asp?2022/16/1/37/351858




  Introduction Top


Hirayama disease (HD) is a rare condition which is also known as juvenile muscular atrophy of distal upper extremities. Other synonyms include monomelic amyotrophy, benign focal amyotrophy, juvenile asymmetric segmental spinal muscular atrophy, and juvenile muscular atrophy of unilateral upper extremity. This disease commonly occurs in Japan and India. This condition was first described by and named after, Hirayama in 1959.[1],[2] Several cases have been reported mostly from Asian countries. The case of a 22-year-old man is presented here with weakness in his distal upper extremities which progressed for several months before stabilizing. His clinical, electrophysiological, and neuroimaging findings were consistent with HD.


  Case Report Top


A 22-year-old male subject visited our physiotherapy department with a 2-year history of slowly progressive weakness and atrophy of the left thumb, followed by all other fingers, left hand, and forearm. After 1 year, it gradually progressed to the left forearm and arm. Weakness of hand limited his many activities of daily living (ADLs). His past medical history had an incident of cold paresis, flexion type of injury of the neck, and a minor head injury suffered many years ago. The onset of symptoms was insidious; it had started initially with shaking of the left thumb, hand, and arm with weakness. No significant apparent family history was evident. The subject has undergone conservative management but no significant improvement was seen.

Assessment and evaluation

On examination, the subject was conscious, cooperative, and well oriented to time, place, and person along with normal cranial nerve function. All superficial and deep sensations were found to be intact across all the dermatomes. On motor evaluation, functions revealed normal tone in all four limbs but muscle girth of the left upper limb was reduced. There was weakness and atrophy of the thenar, hypothenar, interosseous, forearm, and arm muscles except for brachioradialis. According to the Medical Research Council (MRC) grading, there was poor strength in the left forearm and hand muscle compared to the right side [Table 1]. Grip strength was evaluated by Jamar handheld dynamometer and found fair (20.2 lbs) on the left side compared to the right side (35.7 lbs). Deep tendon reflexes were diminished for the left bicep, triceps, and supinator. Balance, coordination, and gait were normal. Upper limb function was assessed by the disabilities of arm, shoulder, and hand (DASH) questionnaire which scored 90/125 on the left side and 55/125 on the right side indicating problems with the left-side upper limb activities.
Table 1: Strength of upper limb muscle according to the Medical Research Council grading

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All blood investigations were within normal limits. Cervical spine X-ray shows loss of cervical lordosis. Electromyography (EMG) study shows evidence of denervation in the form of fasciculation in C7-C8 distribution of both upper limb muscles but the left side was more predominant as compared to the right side with sparing of the brachioradialis muscle. Lower limb muscles show normal EMG study. A nerve conduction velocity study showed reduced Compound Motor Action Potential (CMAP) in the left ulnar nerve but all others were within normal range. Cervical magnetic resonance imaging (MRI) in a neutral position revealed asymmetric flattening of the left half of the cervical cord at the C5-C6 level with associated patchy areas of intramedullary hyperintensities on T2-weighted axial images [Figure 1]. Early disc desiccation with mild posterior disc bulge at the C6-C7 level was noted without any significant spinal canal narrowing or stenosis.
Figure 1: T2-weighted -MRI findings of the cervical spine in extension. The lateral view demonstrates atrophy of the spinal cord in the lower cervical segments. (left) The transverse section at C5-C6 levels shows asymmetrical flattening of the right half of the spinal cord. (right). MRI: Magnetic resonance imaging

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The diagnosis of HD was made based on the age of onset which is 20 years of age, history of cold paresis, and history of flexion type injury of the neck, followed by a gradual onset of progressive weakness and atrophy of the left hand and forearm with sparing of brachioradialis muscle atrophy giving the appearance of oblique amyotrophy. No pyramidal and extrapyramidal signs or abnormalities such as sweating and urination were noted. The cervical MRI along with EMG findings were found to be consistent with this disease. This is a rare disorder and to date, no study in the literature has been found with specific physiotherapy intervention for this rare disease. Hence, the purpose of this study was to build and formulate a specific physiotherapeutic intervention for this rare disease.

Intervention

Regarding management, the application of a soft cervical collar was suggested as it is the main biomechanical correction required to limit the disease. Postural correction and reeducation were also taught to the subject so that his cervical spine can be maintained in a neutral position and avoid further progression. For this, conscious maintenance of the neck in a neutral position during rest and while working was instructed to the subject. Furthermore, while lying, the use of a low-height pillow or a neck roll was instructed. Conventional neck isometric strengthening was taught to the subject for which the subject sat in an upright position and placed their clasped hands at the back of the head. The subject then tried to push the head backward while resisting backward motion with the hands (10 × 10 s/three times a day). This maneuver was repeated in a similar way over the frontal and sideways direction. The erect posture of the spine and neutral head position was maintained throughout the exercise. Activation of the deep neck flexors by the Pressure Biofeedback Unit (PBU) was trained. For this, the subjects were kept in a supine position, a PBU was placed between the back side of their upper cervical region and a therapy table. With their head relaxed in a comfortable manner not to cause movements, the subjects were instructed to hold a pressure gage with one hand to provide visual feedback of their contractile force produced using the pressure gauge connected to the PBU and to place the other hand on their manubrium of sternum to limit the movement of their ribs during the contraction of their deep cervical flexors. During the contraction of the deep cervical flexors, they were instructed to draw their chin inward without the contraction of the sternocleidomastoid muscle and apply a strain to the abdominal muscle to restrict the movement of the ribs. These exercises were performed on a hard therapy table to measure changes in the pressure gauge accurately. The subjects maintained static contraction for 10 s, and then took a rest for 5 s which was defined as a one-time exercise. One set consisted of 10 repetitions, and a total of three sets were performed each day. Strengthening exercises in the form of resistance training for the forearm, wrist, and hand muscle was carried out for 6 weeks. Strengthening exercises with the intensity of 30% of 1 Repetition Maximum (RM) weight, three sets of 10–12 repetitions with a proper rest interval of 5 min between the sets were trained.


  Results Top


The subject's body build was mesomorphic with a height of 1.7 m and a weight of about 58 kg which leads to a body mass index of 20.1 kg/m2. At baseline, grip strength was 20.2 lbs on the left side and 35.7 lbs on the right side. After 6 weeks of intervention, grip strength was improved to 25.6 lbs on the left side and 38.6 lbs on the right side. Similarly, at baseline, the DASH score on the left side was 90/125 and on the right side, it was 55/125, which improved by 76/125 on the left side and 30/125 on the right side after 6 weeks of intervention. Although this improvement was not significant, the overall quality of life had improved. Individual muscle strength of the forearm and hand was again assessed according to MRC grading but no difference was found compared to baseline.


  Discussion Top


HD is a particular type of cervical myelopathy affecting young people characterized by localized amyotrophy in the forearm and hand that is initially progressive but stabilizes within a few years. The most common pathology of this disorder is damage to the anterior horn cell which may be induced by forward displacement of the lower cervical dural sac and spinal cord on neck flexion. We proposed that the forward displacement was one of the pathogenic factors, and reported that therapeutic intervention using a cervical collar to minimize neck flexion halted the progressive weakness in some patients.[3] Normally, the spinal dura mater is loosely attached to the vertebral canal by the nerve roots, the periosteum at the foramen magnum, the dorsal surfaces of C2 and C3, and the coccyx. The dura mater is loose enough to adjust with the increased length of the cervical spine during the flexion movement of the cervical spine. In patients with HD, the taut dural sac separates the posterior dural sac from its adjacent lamina and on neck flexion, cannot compensate for the increased length of the posterior wall. Thus, the posterior dural wall shifts anteriorly, compressing the cervical spinal cord against the posterior margin of adjacent vertebral bodies. This compressive force also affects the anterior spinal artery, leading to impaired microcirculatory disturbances in its territory in the lower cervical cord, and the anterior horn cells which are vulnerable to ischemia begin to degenerate, resulting in localized cord atrophy of the lower cervical region, weak and wasted hands, and forearms. Similar cases have been reported worldwide. The findings for this report were similar to the diagnostic criteria of HD according to Tashiro et al.[4] described in the literature.[5],[6]

MRI picture reveals various findings such as localized lower cervical cord atrophy, asymmetric cord flattening, parenchymal changes in the lower cervical cord, abnormal cervical curvature, and loss of attachment between the posterior dural sac and subjacent lamina have been defined.[7] Out of these, localized lower cervical cord atrophy, asymmetric cord flattening, and loss of attachment have an accuracy of 80% in the identification of the disease, loss of attachment is the most valuable finding for diagnosing HD in the neutral position.[8],[9] In MRI with neck flexion, forward migration of the wall of the dura mater is observed with an enlarged posterior epidural space. A hyperintense, crescentic epidural mass showing curvilinear flow voids and uniform enhancement after administration of contrast are seen in the posterior epidural space.[10],[11] Disappearance of this mass when the neck is in the neutral position suggests congestion of the posterior internal vertebral venous plexus.[12]

In this study, a general physiotherapeutic intervention was given to improve the subject's symptoms, muscle weakness, and ADL activity. To date, no study has been published regarding a specific treatment protocol for this rare disorder. This is the first study which presents a detailed assessment and evaluation of this specific rare disorder and also establishes general physiotherapeutic interventions. Strengthening exercises are helpful in limiting muscle weakness and increasing overall strength, maintaining muscle properties, and improving overall outcomes. The exercises were performed 10–12 repetitions of three sets thrice weekly for a total of 6 weeks. There was a difference of 5.4 lbs on the left side and 2.9 lbs on the right side compared to preintervention status for grip strength. There was also a difference of 14 points on the left side and 25 points on the right side in the DASH score.

In conclusion, HD is a self-limiting disorder and there is no definitive treatment. However, early diagnosis is necessary because a cervical collar may arrest the progression of the disorder by limiting the neck flexion. Physiotherapy helps in preventing complications resulting from immobility such as joint stiffness and muscle wasting. In this study, a proper physiotherapy protocol was built for this specific rare condition and showed that simple exercise with a biomechanical correction may correct the dural malalignment and can limit the further progression of the disease.

Informed consent

Informed consent written in the subject's own language was taken before initiation of evaluation and management.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.

Acknowledgment

The authors appreciate the cooperation of the subject for following the instructions adequately and performing the exercise regularly. The authors are also thankful to the institute for providing support and permission for this work.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Hirayama K. Juvenile muscular atrophy of unilateral upper extremity (Hirayama disease)-half-century progress and establishment since its discovery. Brain Nerve 2008;60:17-29.  Back to cited text no. 1
    
2.
Kira J, Ochi H. Juvenile muscular atrophy of the distal upper limb (Hirayama disease) associated with atopy. J Neurol Neurosurg Psychiatry 2001;70:798-801.  Back to cited text no. 2
    
3.
Tokumaru Y, Hirayama K. Cervical collar therapy for juvenile muscular atrophy of distal upper extremity (Hirayama disease): Results from 38 cases. Rinsho Shinkeigaku 2001;41:173-8.  Back to cited text no. 3
    
4.
Tashiro K, Kikuchi S, Itoyama Y, Tokumaru Y, Sobue G, Mukai E, et al. Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan. Amyotroph Lateral Scler 2006;7:38-45.  Back to cited text no. 4
    
5.
Nascimento OJ, Freitas MR. Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease): A clinical variant of the benign monomelic amyotrophy. Arq Neuropsiquiatr 2000;58:814-9.  Back to cited text no. 5
    
6.
Sitt CM, Fung LW, Yuen HY, Ahuja AT. Hirayama disease in a 17-year-old Chinese man. Singapore Med J 2014;55:e87-9.  Back to cited text no. 6
    
7.
Chen CJ, Hsu HL, Tseng YC, Lyu RK, Chen CM, Huang YC, et al. Hirayama flexion myelopathy: Neutral-position MR imaging findings-importance of loss of attachment. Radiology 2004;231:39-44.  Back to cited text no. 7
    
8.
Mukai E, Matsuo T, Muto T, Takahashi A, Sobue I. Magnetic resonance imaging of juvenile-type distal and segmental muscular atrophy of the upper extremities. Rinsho Shinkeigaku 1987;27:99-107.  Back to cited text no. 8
    
9.
Hirayama K. Juvenile muscular atrophy of distal upper extremity (Hirayama disease): Focal cervical ischemic poliomyelopathy. Neuropathology 2000;20 Suppl: S91-4.  Back to cited text no. 9
    
10.
Pradhan S, Gupta RK. Magnetic resonance imaging in juvenile asymmetric segmental spinal muscular atrophy. J Neurol Sci 1997;146:133-8.  Back to cited text no. 10
    
11.
Chen CJ, Chen CM, Wu CL, Ro LS, Chen ST, Lee TH. Hirayama disease: MR diagnosis. AJNR Am J Neuroradiol 1998;19:365-8.  Back to cited text no. 11
    
12.
Kikuchi S, Tashiro K, Kitagawa M, Iwasaki Y, Abe H. A mechanism of juvenile muscular atrophy localized in the hand and forearm (Hirayama's disease)-flexion myelopathy with tight dural canal in flexion. Rinsho Shinkeigaku 1987;27:412-9.  Back to cited text no. 12
    


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