Hirayama Disease Research Articles

Hirayama Disease: A Case Report and Review of Literature

Hirayama disease is a rare disorder seen in young patients in their second or third decade of life with slowly progressive self-limiting distal upper limb muscle weakness with seldom symmetrical involvement. It is a peculiar anterior horn cell disease that is managed conservatively with limited surgical options available as per literature.

Hirayama Disease Diagnosed after COVID-19 mRNA Vaccination in an Adolescent Patient: A Case Report

Hirayama disease is characterized by initially progressive muscular weakness and wasting of the distal upper limbs in young people. It has a male predominance, and its progression spontaneously arrests within several years. Here, we report the case of a 15-year-old girl with findings of Hirayama disease on spinal magnetic resonance imaging (MRI) after she visited the hospital with unilateral muscle weakness that occurred after coronavirus disease 2019 mRNA vaccination. She was asymptomatic for 3 weeks after vaccination; however, starting the night before hospitalization, her right limb began to lose strength. MRI demonstrated typical Hirayama disease findings.

The radiological and electrophysiological characteristics of Hirayama disease with proximal involvement: A retrospective study.

PurposeHirayama disease (HD) has been largely believed to affect only distal muscles. However, the proximal upper extremities have been affected in some cases, which can be confused with motor neuron diseases.MethodsBaseline data, deep tendon reflex, Hoffmann sign, cervical curvature, sagittal Cobb angle, atrophied spinal cord, high signal intensity, loss of attachment, and affected muscles and segments on electromyography (EMG) were retrospectively obtained and compared between patients with HD with proximal involvement and patients with simple distal HD in one center from September 2007 to April 2022.ResultsIn this study, fifteen patients with proximal HD and 30 patients with simple distal HD were included. The proximal group had a larger proportion of patients with decreased biceps reflex, decreased triceps reflex, brisk or hyperactive knee reflex, positive Hoffmann sign, and cervical kyphosis. The curvatures of the upper part of the cervical spine (C2-4) were lost to a greater degree in the proximal group. More affected segments were observed on magnetic resonance imaging (MRI) and electromyography in the proximal group.ConclusionThe injured segments were longer and the upper curvature of the cervical spine was poorer in patients with HD with proximal involvement. These findings indicated that proximal involvement may indicate more serious HD.

The clinical characteristics of Hirayama disease in females

IntroductionTo characterize Hirayama disease in female patients, and increase awareness among clinicians regarding the specifics of this disease. MethodsBaseline data, clinical manifestations, characteristics of cervical-flexion magnetic resonance imaging, and electromyography were collected and compared among females and males with Hirayama disease. In addition, the literature on Hirayama disease in females up to October, 2021 was searched in PubMed and the relevant data were compared with the data from our study. ResultsTwenty female and 40 male patients were included in this study. The average ages of onset and menarche were 14.65 and 12.75 years old. All patients suffered from muscular weakness and atrophy of the upper limb(s), with flattening and/or atrophy of the lower cervical spinal cords in cervical-flexion magnetic resonance imaging, and neurogenic patterns in the atrophic muscles as determined using electromyography. The age of onset in females was about 2 years later than the age of menarche, and the age of onset in females was 2 years earlier than that in males. There were no obvious differences in clinical presentation between males and females. DiscussionAlthough females presented with Hirayama disease two years earlier than males, no other clinical differences were observed. Hirayama disease is likely associated with growth and development in puberty, and early identification, regardless of whether patients are male or female, is critical to optimizing prognosis.

Ayurvedic management of Hirayama disease

Hirayama disease (HD), also known as monomelic amyotrophy, is rare cervical myelopathy due to spinal cord compression by forward displacement of the posterior dural sac during neck flexion that manifests itself as asymmetrical, slowly progressive atrophic weakness of the forearms and hands predominantly in young males. A 23-year-old man came to the outpatient department with a complaint of weakness of the right upper limb for the past 3 years which started in the right hand and forearm along with tremors in both hands. Considering the clinical history, physical examination, and electromyography, the condition was diagnosed as HD by an allopathic consultant two years ago. The symptoms can be included under Vata vyadhi. Some of the symptoms such as Asthibheda (~splitting type of pain in the bones), Sandhishoola (~pain in joints), Mamsa kshaya (~diminution of muscle mass), and Bala kshaya (~diminished strength) come under Asthimajjagata vata. Following the symptomatology and its resemblance with Asthimajjagata vata, the patient was treated with Snehapana (~internal oleation) with Ashwagandha ghrita followed by Virechana karma (~purgation therapy). Anuvasana basti with Panchatikta kshira along with Shalishastika pinda svedana was done after Virechana. Rasayana kalpa ksheera chikitsa was given after completion of Basti procedure. After 40 days of treatment, the patient showed significant improvement in muscle bulk. The magnetic resonance imaging shows no neural compression. This case shows that Ayurveda treatment may be helpful in pathologies like HD. Further, better results may be obtained if Ayurvedic therapies start at an earlier stage and continued for a longer duration.

Hirayama disease.

Hirayama disease.

A Vietnamese Case of Hirayama Disease and Narrative Review of Literature

Hirayama disease (HD) or juvenile muscular atrophy of unilateral upper extremity was initially reported in 1959 by Hirayama et al. [11] this disorder was more frequently discovered in Asian countries and initially thought to spare Caucasian populations.

Pseudodystonia and Neuropathic Tremor in a Patient With Monomelic Amyotrophy.

Pseudodystonia and Neuropathic Tremor in a Patient With Monomelic Amyotrophy.

Surgical treatment of spinal cord compression due to Hirayama disease: illustrative case.

BACKGROUNDHirayama disease (HD), also known as juvenile spinal muscular atrophy, is a rare condition in which flexion of the cervical neck causes compression and ischemic changes to the anterior horns of the spinal cord. Here the authors presented the first reported case of HD in North America that was successfully treated via surgical intervention.OBSERVATIONSThe patient was a 15-year boy with insidious onset upper limb weakness and atrophy. His findings were a classic presentation of HD although his complex history and relative rarity of the disease caused him to remain undiagnosed for months. After conservative management via cervical collar failed, the patient was successfully treated via C5-C7 anterior cervical discectomy and fusion. The patient’s symptoms stabilized by the 3-month follow-up.LESSONSThe diagnosis of HD is easy to miss because of the lack of reporting and widespread knowledge of this condition in North America. Thus, when presented with a case of insidious onset limb weakness in a juvenile patient, HD should be placed on the differential list and verified with cervical flexion magnetic resonance imaging. Additionally, surgical intervention should be considered a safe and effective option for HD when conservative methods have failed.

Cervical Flexor-Extensor Muscle Disparity in Monomelic Amyotrophy (Hirayama Disease): Evidence from a Comprehensive Morphometric Evaluation of Subaxial Paraspinal Musculature.

Background Monomelic amyotrophy (Hirayama disease) has been established to have accompanied biomechanical abnormalities such as flexion hypermobility and sagittal imbalance. Paraspinal muscles, the major contributor to cervical biomechanics, have, however, not been comprehensively evaluated in the disease. The objective of this study was to compare the morphology of the subaxial cervical paraspinal musculature in patients with and without Hirayama disease. Materials and Methods A retrospective case-control study of 64 patients with Hirayama disease and 64 age- and sex-matched controls was performed . Cross-sectional areas (CSAs) of the superficial and deep flexors and extensors from C3 to C7 were measured on T2-weighted magnetic resonance imaging sequences. Student's t -test was used to compare differences between the paraspinal muscle CSAs in the study and control groups. Results Compared with controls, patients with Hirayama disease were found to have larger flexors and smaller extensors at all levels. The overall subaxial muscle area values for superficial flexors and deep flexors were significantly larger ( p < 0.0001) in patients, while the corresponding superficial extensor and deep extensor area values were significantly smaller than in controls ( p = 0.01 and < 0.0001, respectively). The patient group demonstrated stronger subaxial deep flexor–deep extensor, superficial flexor–superficial extensor, and total flexor–total extensor ratios ( p < 0.0001). Conclusion Patients with Hirayama disease have morphometric alterations at all levels of their subaxial cervical paraspinal musculature. These patients have abnormally large flexors and small extensors compared with controls. This flexor–extensor muscle disparity could be utilized as a potentially modifiable factor in the management of the disease.

How to reconstruct the lordosis of cervical spine in patients with Hirayama disease? A finite element analysis of biomechanical changes focusing on adjacent segments after anterior cervical discectomy and fusion

PurposeTo compare the biomechanical changes of adjacent segments between patients with Hirayama disease and non-pathological people after anterior cervical discectomy and fusion (ACDF) operation, and to explore the optimal degree of local lordosis reconstruction during surgery.MethodsA young male volunteer was recruited to establish a three-dimensional finite element model of the lower cervical spine based on the CT data. By adjusting the bony structures and simulating the operation process, the models of non-pathological individuals before and after ACDF, patients with Hirayama disease before and after ACDF, and different local lordosis angles were established. Then, the postoperative range of motion (RoM) and stress of the adjacent segments under flexion, extension, left bending, right bending, left rotation and right rotation were recorded and compared.ResultsThe RoM and stress of all segments of lower cervical spine in patients with Hirayama disease are higher than those in non-pathological individual, and this trend still exists after ACDF surgery. When the local lordosis angle is under physiological conditions, the RoM and stress of the adjacent segments are minimum.ConclusionCompared with non-pathological people, Hirayama disease patients have differences in cervical biomechanics, which may lead to cervical hypermobility and overload. After ACDF, the possibility of adjacent segments degeneration is greater than that of non-pathological people. When the operation maintains the physiological local lordosis angle, it can slow down the degeneration.

Reverse split hand syndrome and distinctive spine imaging features in Hirayama disease.

Reverse split hand syndrome and distinctive spine imaging features in Hirayama disease.

Update on the Pathogenesis, Clinical Diagnosis, and Treatment of Hirayama Disease.

Hirayama disease (HD) is characterized by the juvenile onset of unilateral or asymmetric weakness and amyotrophy of the hand and ulnar forearm and is most common in males in Asia. A perception of compliance with previous standards of diagnosis and treatment appears to be challenged, so the review is to update on HD. First, based on existing theory, the factors related to HD includes, (1) cervical cord compression during cervical flexion, (2) immunological factors, and (3) other musculoskeletal dynamic factors. Then, we review the clinical manifestations: typically, (1) distal weakness and wasting in one or both upper extremities, (2) insidious onset and initial progression for 3–5 years, (3) coarse tremors in the fingers, (4) cold paralysis, and (5) absence of objective sensory loss; and atypically, (1) positive pyramidal signs, (2) atrophy of the muscles of the proximal upper extremity, (3) long progression, and (4) sensory deficits. Next, updated manifestations of imaging are reviewed, (1) asymmetric spinal cord flattening, and localized lower cervical spinal cord atrophy, (2) loss of attachment between the posterior dural sac and the subjacent lamina, (3) forward displacement of the posterior wall of the cervical dural sac, (4) intramedullary high signal intensity in the anterior horn cells on T2-weighted imaging, and (5) straight alignment or kyphosis of cervical spine. Thus, the main manifestations of eletrophysiological examinations in HD include segmental neurogenic damages of anterior horn cells or anterior roots of the spinal nerve located in the lower cervical spinal cord, without disorder of the sensory nerves. In addition, definite HD needs three-dimensional diagnostic framework above, while probable HD needs to exclude other diseases via “clinical manifestations” and “electrophysiological examinations”. Finally, the main purpose of treatment is to avoid neck flexion. Cervical collar is the first-line treatment for HD, while several surgical methods are available and have achieved satisfactory results. This review aimed to improve the awareness of HD in clinicians to enable early diagnosis and treatment, which will enable patients to achieve a better prognosis.

Why the patients with Hirayama disease have abnormal cervical sagittal alignment? A radiological measurement analysis of posterior cervical extensors

PurposeTo explore the relationship between the strength of posterior cervical extensors (PCEs) and cervical sagittal alignment in Hirayama disease (HD) patients.MethodsWe analyzed the (magnetic resonance imaging) MRI T2WI and X-rays of 60 HD patients who visited Huashan Hospital from June 2017 to February 2020. Symptoms of these patients include adolescent onset, manifestation of unilateral upper limb muscle weakness and muscle atrophy of the forearm and hand. MRI images were used to measure (the cross-sectional area) CSA of cervical PCEs. The ratio of muscle CSA to vertebral body areas at the same level is defined as R-CSA. Cervical sagittal alignment includes the C2–7 Cobb angle, T1 slope and C2–7 sagittal vertical axis (SVA). The geometric center of the C3–6 vertebral body was determined using the line connecting the C2 inferior endplate and the C7 upper endplate. When located behind the line, it is defined as a “local kyphotic deformity.” The number of vertebral bodies involved in kyphotic deformity was determined by measuring the local kyphosis angle (LKA). Spearman correlation analysis (α = 0.05) was used to determine the relationship between R-CSA and sagittal parameters. ROC curves were used to analyze the sensitivity and specificity of relevant variables.ResultsSpearman correlation test revealed that R-CSA negatively correlated with T1S (S = 0.34, r = 0.34, p = 0.01) and LKA (S = 0.44, r = 0.5, p = 0.01), but did not correlate with the C2-C7 Cobb angle (S = 0.20, p = 0.12) or C2-C7 SVA (S = − 0.17, p = 0.46). (p < 0.05). ROC curve analysis showed that the areas under the curve (AUCs) of the T1 slope and LKA was 0.6696 and 0.7646, respectively. T1 slope, cutoff value: 17.2°; sensitivity: 0.5806; specificity: 0.7241; p < 0.05. LKA: cutoff value: − 14°; sensitivity: 1; specificity: 0.5333; p < 0.05.ConclusionsIn patients with Hirayama disease, the strength of posterior cervical extensors and cervical sagittal alignment are closely related. The local kyphosis angle can be used as a reference for the strength of posterior cervical extensors. These results indicate the weakness of PCEs, which may predispose the cervical spine of HD patients to a less stable situation. Therefore, patients with Hirayama disease should strengthen the exercise of the PCEs.

Hirayama Disease: A Rare Case Report and Literature Review

Hirayama disease is a rare neurological condition and is characterized by a sporadic juvenile muscular atrophy of distal upper extremity in young males. The disease is more prevalent in Japan and other Asian countries, though a few cases have been reported in Western countries as well. It manifests as a self-limiting, gradually progressive atrophic weakness of forearm and hand. The anterior displacement of posterior dura during neck flexion leading to cervical cord atrophy has been hypothesized. We discuss a case of a 21-year-old male patient with progressive distal upper extremity weakness, diagnosed with Hirayama disease, and literature review for the same. Keywords: Hirayama Disease, Juvenile muscular atrophy, Monomelic amyotrophy

Physiotherapeutic management of hirayama disease: A case report

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.

Hirayama Disease: Review on Pathophysiology, Clinical Features, Diagnosis and Treatment

Hirayama disease is a relatively unusual cause of cervical myelopathy characterized by uni- or bilateral asymmetric weakness, fasciculations and atrophy of the distal upper limbs, mostly seen in young males. The insidious weakness progresses over 3–5 years, after which it stops. Hirayama disease results from the abnormal anterior shifting of the posterior cervical dura that occurs during cervical flexion, leading to cord impingement. Electrophysiologic studies reveal denervation of C7–T1 myotomes and absence of sensory involvement. Dynamic magnetic resonance imaging of the cervical spine is essential in confirming the diagnosis. Treatment is aimed at primarily avoiding neck flexion, which is achieved with the help of a cervical brace; however, progressive disease calls for surgical intervention. Although the disease is self-limiting, it causes many functional impairments in affected individuals. In this review, we describe the epidemiology, pathophysiology, clinical manifestations, imaging characteristics, electrophysiologic findings, differential diagnoses and updates in the treatment of Hirayama disease. This review also aims to improve the awareness of this disease among clinicians, enabling early suspicion, diagnosis and management.

Hirayama disease: neutral and flexion magnetic resonance imaging and utility of inter-segmental angle of flexion.

Hirayama disease (HD) is a rare disease that was commonly mis-diagnosed in the past. The importance of neutral and flexion magnetic resonance imaging (MRI) in its accurate diagnosis has been emphasized along with utility of the inter-segmental angle of flexion. Aim of the study was to observe MRI findings of HD in neutral and flexion position and measure the inter-segmental angle of flexion. Cervical MR images of 17 patients of suspected HD were evaluated retrospectively for loss of attachment (LOA) of posterior dura, lower cervical cord atrophy, T2 hyperintensity, loss of cervical lordosis, enhancement of posterior epidural venous plexus, and inter-segmental angle of flexion on neutral and flexion MRIs. Flexion MRI showed LOA of posterior dura (most commonly and maximum at C6 vertebral level) and intense enhancement in posterior epidural space in almost all patients. The mean inter-segmental angle of flexion at C5-C6 was 9.2°, and at C6-C7 it was 6°. Neutral MRI revealed LOA in 64.7%, lower cervical cord atrophy in all patients, T2 hyperintensity in the lower cervical cord in 35.2% of patients, and loss of cervical lordosis in 58.8% of patients. Flexion MRI is the gold standard for diagnosis of HD; however, certain imaging attributes, i.e. loss of attachment of posterior dura, asymmetrical lower cervical cord atrophy, T2 hyperintensity, and loss of cervical lordosis, can be seen on neutral MRI as well, which subsequently prompts the radiologist to include flexion MRI for confirmation. The inter-segmental angle of flexion is increased in patients with HD, which plays a role in planning timely surgical intervention.

Monomelic amyotrophy with clinico-radiological and electrophysiological evaluation: A study from Eastern India.

ABSTRACTBackground:Monomelic amyotrophy (MMA) is a benign, rare, sporadic disorder of adolescent and young adults with male predominance, where neurogenic amyotrophy is restricted to an upper or lower limb. It is a variant of lower motor neuron disorder with insidious onset and slow progression for 2-4 years. Paucity of cohort studies as well as relative unawareness among physicians in eastern India stimulated us to do this work.Material and Methods:Prospective observational study involving 140 cases of MMA from 2012 to 2016, conducted at S.C.B.Medical College, cuttack, Odisha to evaluate clinical profile, electrophysiology and radiological features. All the data were analysed & subjected to statistical analysis through SPSS software version 24.Results:Mean age at onset and presentation were 19.6yrs and 21.7yrs respectively and the average duration 3.2yrs. Upper limb involvement was more common (91.4%) with distal affection (83%) more than proximal (7%). Isolated Leg amyotrophy found in 12 cases (~9%) and 10 cases were having thigh weakness & atrophy. B/L Upper Limb distal involvement was present in 18.5% cases asymmetrically. Family history found in~2.8%. Autonomic symptoms were present in affected and bilateral homologous Limb in 21%, 5.8%(~6%) patients. Changes in electromyography (EMG) were present in affected limb (100%) and clinically unaffected limb (15%).Conclusion:MMA is a benign disease of young males with weakness and atrophy confined to unilateral limb or asymmetrical homologous limb and areflexia without sensory loss. It progresses variably for 2-3 years followed by stabilization without progression to Motor neuron disease.

Monomelic amyotrophy: a rare disease with unusual features (Hirayama disease).

A 36 years old female presented with chief complains of right sided upper limb weakness which was gradual in onset and progressive in nature. When detailed history was taken, it was observed that she was also having complains of altered sensations and hyperhidrosis in both the palms. On further assessment we found that there was no history of trauma to cervical region or any cervical pain. She has no other past history such as allergies or any exposure to toxins. On neurological assessment we found that patient has muscle atrophy with increased tone in upper limb along with tremors (A) and uncertain atrophy like changes in cervical spine on MRI (Magnetic Resonance Imaging) (B). On further examination clonus was present over left calf with Babinski sign positive. When further investigations were done it was found out that patient has lower and upper motor neuron lesions.