Hirayama Disease Research Articles

Clinical, Electrodiagnostic, Sonographic, and Radiological Findings of Hirayama Disease: A Report of Two Cases and a Review of the Literature

Clinical, Electrodiagnostic, Sonographic, and Radiological Findings of Hirayama Disease: A Report of Two Cases and a Review of the Literature

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.

Hirayama Disease in a Young Male: A Case Report

Hirayama disease is a rare benign neurological disease that affects the anterior horn of the spinal cord at C5 to T1, mainly at C7 and C8 due to imbalance growth between the vertebral column and the dura mater leading to microcirculatory disturbances in the anterior portion of the spinal cord due to overstretched cord, especially during flexion of the neck causing unilateral or rarely asymmetrically bilateral upper limb weakness and muscle wasting.It is a case of a 21-year-old boy presented with weaknesses in his left hand and forearm for 2 years which aggravates during cold weather and flexion of the neck. A plain x-ray of the neck and MRI of the cervical spine were conducted which show the features of Hirayama disease.

Phenotypic, Electrophysiologic, and Imaging Spectrum of Hirayama Disease from Northern India.

Cervical flexion-induced myelopathy, also known as Hirayama disease (HD), is a lower motor neuron disorder seen mainly in adolescents and young adults, affecting the C7-T1 myotomes, presenting as asymmetric weakness with wasting of one or both the distal upper limbs. We aimed to describe the clinical features, electrophysiology, and radiologic features of HD in a tertiary care institute in northern India. One hundred and forty patients between 2017 and 2022 with clinical and imaging features consistent with HD were retrospectively reviewed from the All India Institute of Medical Sciences-Comprehensive Neuromuscular Diseases center database. Majority were males with the mean age of onset of illness being 17.8 years. The median duration of the symptoms was 3 (1.5-4) years. Sixty-nine (49%) patients had unilateral involvement, and the disease was actively progressing in 88 (63%) patients at presentation. Two families had history of HD in two (1.4%) siblings. Electromyography showed abnormal findings in the clinically involved limb in all the patients and in the clinically uninvolved limb in 17/50 (34%) patients. Flexion magnetic resonance imaging (MRI) demonstrated forward dural displacement in 134 (96%) patients and asymmetric cord flattening in 124 (88.5%) patients. Disability was graded as mild, moderate, and severe; 12 (13%) had severe disability. The majority were managed conservatively, and four underwent surgery for HD. A high index of suspicion of HD needs to be kept in a young male presenting with distal upper limb weakness and atrophy. Dynamic MRI of the cervical spine in young adults presenting with hand wasting is inevitable. This disease needs to be managed aggressively and early to prevent serious dysfunction and loss of productivity.

Anesthetic Challenges in Hirayama Disease Patients Undergoing Cervical Spine Surgery—A Case Series

AbstractHirayama disease (HD) is a rare disease, resulting from cervical compressive myelopathy, manifesting as upper limb muscular atrophy, and rarely autonomic and upper motor neuron signs. Anesthesia management is challenging—careful neck positioning during bag-mask ventilation and endotracheal intubation, avoidance of drugs that release histamine, multimodal monitoring to avoid delayed recovery, anticipation of hypotension, and blood loss due to autonomic dysfunction—all this is necessary for successful outcome of general anesthesia in HD patients. This case series demonstrates that preexisting autonomic dysfunction in HD patients should alert the anesthesiologists regarding higher likelihood of hemodynamic perturbations and blood loss, compared with patients who have normal autonomic functions, and henceforth take appropriate precautionary measures.

Dynamic examinations in MRI scanners crucial in diagnosing cervical flexion myelopathy (Hirayama Disease).

Dynamic examinations in MRI scanners crucial in diagnosing cervical flexion myelopathy (Hirayama Disease).

Hirayama Disease: Neutral and Flexion Magnetic Resonance Imaging Manifestations and Single Tertiary Care Center Analysis on 3T Scanner.

Hirayama disease (HD) is a rare benign type of cervical cord myelopathy occurring commonly in young males as unilateral or bilateral asymmetrical amyotrophy of the hand and forearm muscles in C8-T1 distribution. Magnetic resonance imaging (MRI) is the best technique for the evaluation and imaging of this entity. This is a retrospective review of cervical magnetic resonance images of patients that were taken for clinically suspected and diagnosed HD on 3T MRI in postcontrast neutral and flexion (30°-40°) positions from July 2019 to January 2024 at Shri Ram Murti Smarak Institute of Medical Sciences, Bareilly. Fourteen patients included in the study were males less than 34 years of age. MRI findings of cord atrophy in the lower cervical region/cervico-dorsal junction, abnormal cervical curvature, loss of attachment of the dorsal dural sac and subjacent laminae with anterior displacement, and a prominent intense enhancing posterior epidural space were observed in all 14 patients. The minimum anteroposterior cord diameters in the neutral and flexion positions were 2.9 and 2.8 mm, respectively (mean thickness of laminodural space on flexion - 5.2 mm). Other MRI findings showed variable representations. Flexion-position MRI has emerged as the gold standard for establishing and validating the diagnosis of HD in clinically suspected cases and should be an essential part of the protocol for the screening of clinically suspected cases of HD to aid in early treatment and therapeutic intervention. Complimentary newer sequences such as the Three-dimensional (3D)-Constructive interference in Steady State (CISS)/Fast Imaging Employing Steady-state Acquisition Cycled Phases (FIESTA-C) may reinforce better appreciation of epidural flow voids.

Hirayama disease successfully treated by posterior fixation: a case report

Introduction and importance: Hirayama disease is a rare form of motor neuron amyotrophy that usually presents with weakness and atrophy of the distal upper extremities in young males. It is believed that it is caused by spinal cord compression during neck flexion because of the widening of the posterior extradural space. This case has been brought to attention due to its extraordinary rarity, serving as an educational tool for medical professionals and to advocate for surgical intervention when deemed necessary. Case presentation: The authors present a case of a young male in his 20s who was diagnosed with Hirayama disease, had weakness and atrophy in both of his upper limbs, and has been successfully treated by posterior fixation at C4, C5, and C6 with lateral mass screws. Clinical discussion: The majority of cases stabilize after 2–3 years of progression; therefore, cervical collars are generally sufficient for therapy. However, in certain serious cases with progression even after that time, surgical intervention is an option. Because this is such an uncommon incidence, surgical therapy has not been explored and is controversial. Conclusion: The use of posterior fixation at C4, C5, and C6 with lateral mass screws as a therapy for Hirayama disease may be regarded as a successful approach.

Hirayama Disease: a Case Report with Late Onset

The etiology of Hirayama's disease (HD) is still controversial, but the most accepted mechanism is the repetition of sudden neck flexion movements, which causes a flattening of the cervical spinal cord. It reaches the cells of the anterior tip of the medulla in the C7-T1 segments. 45-year-old patient with HD, diagnosed 1 year ago with typical atrophy of the left upper limb (LUL) associated with fasciculation and decreased osteotendinous reflexes in upper limbs (ULL). Due to the rarity of the disease, there are many underdiagnosed cases, which results in low epidemiological data reported. We are aware that the prevalence in males is explained by accelerated growth at puberty.

Long term quality of life follow-up and functional impairment study in patients with Hirayama disease

Hirayama Disease (HD) is a focal motor neuron disorder generally affecting young adults with a male predominance who experience weakness and atrophy in distal upper extremity muscles in an asymmetric or unilateral pattern. Progression is insidious though significant weakness occurs during a progressive phase of the disease over 2–5 years. The long-term outcome of HD is not as well-known and, thus, this study presents self-reported outcomes from HD patients years after a diagnosis. Thirty HD patients reported quality of life (QOL) and other functional outcome measures after a mean of just over 11 years from diagnosis. Variables that predicted better or worse outcome were analyzed. Overall, QOL was affected by HD though most patients were functional with limitations. No clear attributes of patients or their disease predicted outcome.

Clinical Outcomes of Anterior Cervical Decompression and Fusion Therapy for Patients With Hirayama Disease

To investigate the clinical outcomes of anterior cervical decompression and fusion (ACDF) surgery for the treatment of Hirayama disease (HD). In this study, 15 patients with HD who underwent ACDF operation between March 2022 and March 2023 with complete data were retrospectively analyzed. Following the diagnosis, conservative treatment was ineffective, and thus, disease progression severely affected the quality of life of patients. ACDF was performed in the China-Japan Friendship Hospital, and patients were regularly followed up postoperatively. The cervical range of motion (ROM), the anteroposterior and transverse diameter of the spinal cord, and their ratio were measured before and after the operation. The neurological function of patients before and after the last follow-up was evaluated using the selected brief-Michigan Hand Questionnaire (sb-MHQ), whilst the overall therapeutic effect after the operation was evaluated using Odom's criteria. All patients were followed up for an average of 12 ±4.5 (6-18) months. Dynamic X-ray displayed that the ROM of cervical vertebrae decreased from 72.73 ±12.72 ° (53-97 °) to 33.53 °±10.34 ° (15-54 °) (P < 0.001). Moreover, flexion cervical MRI performed after the operation revealed that spinal cord compression was markedly relieved, and the ratio of the anteroposterior diameter of the spinal cord to the transverse diameter increased from 0.27 ±0.09 to 0.43 ±0.03 (P < 0.001). At the last follow-up visit, finger extension tremor symptoms were alleviated, although they did not completely disappear. Contrastingly, muscle atrophy showed no significant improvement. Finally, the sb-MHQ score significantly increased from 17.33 ±1.76 preoperatively to 24.80 ±1.78 at the last follow-up (P < 0.001). Our results collectively highlighted the efficacy of ACDF for the treatment of HD. This procedure can limit excessive cervical flexion and repeated compression of the spinal cord during cervical movement and considerably improve upper limb functions.

Anterior cervical discectomy and fusion for the treatment of pediatric Hirayama disease.

Hirayama disease, a rare cervical myelopathy in children and young adults, leads to progressive upper limb weakness and muscle loss. Non-invasive external cervical orthosis has been shown to prevent further neurologic decline; however, this treatment modality has not been successful at restoring neurologic and motor function, especially in long standing cases with significant weakness. The pathophysiology remains not entirely understood, complicating standardized operative guidelines; however, some studies report favorable outcomes with internal fixation. We report a successful surgically treated case of pediatric Hirayama disease, supplemented by a systematic review and collation of reported cases in the literature. A review of the literature was performed by searching PubMed, Embase, and Web of Science. Full-length articles were included if they reported clinical data regarding the treatment of at least one patient with Hirayama disease and the neurologic outcome of that treatment. Articles were excluded if they did not provide information on treatment outcomes, were abstract-only publications, or were published in languages other than English. Of the fifteen articles reviewed, 63 patients were described, with 59 undergoing surgery. This encompassed both anterior and posterior spinal procedures and 1 hand tendon transfer. Fifty-five patients, including one from our institution, showed improvement post-treatment. Eleven of these patients were under 18years old. Hirayama disease is an infrequent yet impactful cervical myelopathy with limited high-quality evidence available for optimal treatment. The current literature supports surgical decompression and stabilization as promising interventions. However, comprehensive research is crucial for evolving diagnosis and treatment paradigms.

Laminoplasty with tented duraplasty for Hirayama disease.

Hirayama disease (HD) is a characterized by progressive amyotrophy of the upper limbs due to a forward displacement of the cervical dura during neck flexion. Unlike other treatment options aiming at preventing cervical flexion (e.g., collar or arthrodesis), laminoplasty with tented duraplasty addresses dural dysplasia. Technically, the procedure consists in enlarging the dural sac by performing an expansile duraplasty that is secured to the yellow ligaments, in association with an open-book laminoplasty. Laminoplasty with tented duraplasty is a surgical option addressing the cause of HD to prevent further neurological deterioration while preserving cervical motion.

Characteristics of Hirayama Disease in Young South Korean Soldiers.

The purpose of this study was to describe the clinical presentation and features in electrodiagnostic and imaging investigations of young South Korean males diagnosed with Hirayama disease (HD). We reviewed the electronic medical records of South Korean enlisted soldiers who were diagnosed with HD and discharged from military service during 2011-2021. We investigated the clinical characteristics and results of electrodiagnostic and magnetic resonance imaging (MRI) investigations. We analyzed laterality and identified the involved muscles using needle electromyography (EMG). Loss of lordosis, localized cervical cord atrophy, loss of attachment between the posterior dura and subjacent lamina, asymmetric flattening of the cord, crescent-shaped mass in the posterior epidural space, and noncompressive intramedullary T2-weighted high signal intensity were investigated using neutral- or flexion-position MRI. Forty-two male patients aged 20.2±0.8 years (mean±standard deviation) were identified. All patients complained of hand weakness, and 10 complained of hand tremor (23.8%). Four patients (9.5%) had symptoms in both upper limbs, and five (11.9%) had sensory disturbances. Needle EMG revealed that muscles in the C7-T1 myotome were commonly involved, and C5-C6 involvement of the deltoid (10.5%) and biceps brachii (12.5%) was also observed. In cervical MRI, localized cord atrophy (90.0%) was the most characteristic finding, and cord atrophy was most severe at the C5-C6 level (58.3%). This is the first description of a large number of patients with HD in South Korea. The clinical presentation and features found in electrodiagnostic and imaging investigations will improve the understanding of HD in the young South Korean male population.

Venous pathology targeted surgical management in Hirayama disease: A comprehensive case series of nine cases exploring this potential etiology.

Hirayama disease is a rare cause of cervical myelopathy predominantly affecting young individuals. The disease is classically characterized by muscle atrophy in the distal upper limbs. While various etiopathogenesis such as dural sac dysplasia, nerve root dysplasia, structural abnormalities of the spinal ligament, and venous dysplasia have been proposed, this study explores the potential role of venous pathology and surgical management on the basis of it. This is a prospective descriptive case series of nine cases. The diagnosis was made based on the Huashan diagnostic criteria which includes clinical manifestation, imaging, and electrophysiology. In cases where magnetic resonance imaging (MRI) failed to demonstrate engorged veins, a computed tomography (CT) venogram of the cervical spine was used as an imaging tool. All patients underwent cervical laminectomy and coagulation of the posterior epidural venous plexus with or without laminoplasty. All the patients were followed up regularly; clinical improvement and neck disability index were assessed. All nine patients were male and exhibited classical clinical features, electrophysiological abnormalities, and MRI findings except, in one patient where a CT venogram helped in establishing the diagnosis as the MRI was inconclusive. Postoperatively, all patients had neurological improvement and stabilization of the disease. All patients who underwent CT venogram and cervical spine X-ray in neutral and dynamic position demonstrated no recurrence of engorged venous plexus or significant instability except one patient developing kyphosis. One patient experiencing symptoms in the other limb underwent a second surgery. This comprehensive case series strongly supports venous pathology as a potential etiology of Hirayama disease. Surgical management with laminectomy and venous coagulation with or without expansile laminoplasty has delivered consistent improvement in neurological outcomes and long-term disease stabilization without the restriction of movements and lesser complications. However, further research is warranted to elucidate the mechanism underlying cervical venous dilatation.

Physiotherapy Assessment and Intervention for Hirayama Disease: A Case Report

Hirayama Disease (HD) is a type of localised amyotrophy that mostly affects motor neurons. It is benign, self-limiting, and does not progress. It is not the same as distal limb juvenile muscular atrophy, which is a symptom of motor neuron disease. Together with other immunological and physical variables, cervical cord compression, particularly during cervical flexion, is one cause of HD. Over three to five years, the illness usually worsens progressively, resulting in wasting and distal weakness in one or both upper extremities. In addition, patients may experience cold paralysis, coarse finger tremors, and non specific sensory loss. Hereby, the authors present a case report of a 22-year-old male who had been steadily developing right upper extremity weakness for three years was evaluated in the Outpatient Department. The physical examination revealed atrophy of the right forearm muscle, reduced range of motion in right wrist flexion and extension, weak wrist extensors, finger extensors, supinator muscles of the forearm, and shoulder flexors. As HD does not have a well-defined physiotherapy protocol, tailor-made treatment was given for four weeks aimed at improving upper extremity muscle strength and overall hand function. The present case report will aid the physiotherapists understand the assessment and treatment of HD.

Delayed Diagnosis of Hirayama Disease Due to an Antecedent History of Trauma: A Report of Two Cases

Abstract Hirayama illness is a rare neurological condition that first manifests as gradual muscular weakening and wasting of the distal upper limb in young males, followed within a few years by a spontaneous arrest. The spinal cord and cervical dural sac are thought to have been displaced forward by neck flexion, which is thought to be the cause of the condition. In contrast to the Middle East countries, it is more widespread in Asia. We have described here two cases from India, who presented with increasing weakness and wasting of the distal part of their upper limbs after a traumatic event. Although their symptoms were initially thought to be due to trauma, later, they were diagnosed as cases of Hirayama disease (HD), following detailed history and physical examination, radiological investigations and electrophysiological examination. A review of the literature was done which also described electrophysiological and radiographic findings, which supported our diagnosis. For young male patients who present with weakness and wasting of upper limb distal group muscles, HD should be investigated because it is infrequently seen in clinical settings.

Effectiveness of Physiotherapy Intervention in the Symptomatic Management of Hirayama Disease: A Case Report

Hirayama Disease (HD) is an infrequent condition. Due to its rarity and misdiagnosed nature, epidemiological data is limited. Therefore, the present study aimed to find the effectiveness of physiotherapy intervention in the symptomatic management of HD. The results of the present study provided evidence for the development of standardised protocol for treatment to manage the symptoms of HD. Hereby. the authors present a case of a 20-year-old male, who presented with the chief complaint of weakness in bilateral hands for the past 3 years. The patient was examined for upper limb motor functions using Nerve Conduction Velocity (NCV), Manual Muscle Testing (MMT), Patient-related Wrist Evaluation (PRWE) and Patientrelated Hand Evaluation, Quality of Life (QoL) Scale, Handheld Dynamometer (HHD) and Pinchmeter. Pre and post-intervention analysis of outcome measures were used to show the differences n the improvement of the patient’s symptoms. There was a clinical and symptomatic improvement in the scoring of PRWE from 29 to 6, NCV (30.17 m/s to 35.80 m/s on right side median nerve, 28.23 m/s to 32.06 m/s on right side ulnar nerve, 32.87 m/s to 37.23 m/s on left side median nerve, 32.13 m/s to 40.12 m/s on left ulnar nerve), MMT (from grade 2 or 3 to grade 3, 4 or 4+), QOL (72 to 99), HHD (0.3 lb to 0.5 lb of left side and 0.1 lb to 0.5 lb of right side) and Pinchmeter (0.5 lb to 3 lb of left and 0.2 lb to 1 lb of right side). The treatment given was effective in improving the patient’s symptoms. The results can be used to conduct further studies to add evidence-based literature in physiotherapy practice.

Hirayama Disease with Isolated Spinal Cord Atrophy

This report presents a young-aged man with Hirayama disease who had muscle atrophy and weakness strictly confined to the C8/T1 myotome that consistently accorded with electromyographic results. In the magnetic resonance imaging (MRI) evaluation, there was only a prominent isolated spinal cord atrophy without any typical flexion MRI features of Hirayama disease. We speculate that it may be possible to have only isolated spinal cord atrophy as a limited form in Hirayama disease even in the absence of anterior displacement of the dura in the flexed position. These findings emphasize the importance of understanding both typical and atypical limited findings of the MRI imaging features of Hirayama disease, because it’s critical to distinguish Hirayama disease, mostly showing benign course, from fatal conditions like amyotrophic lateral sclerosis.

Hirayama disease, case report

Hirayama disease, case report