Cervical flexion myelopathy in a patient showing apparent long tract signs: A severe form of Hirayama disease

Hirayama disease, or juvenile amyotrophy of distal upper extremity, is a benign, self-limiting cervical myelopathy consisting of selective unilateral weakness of the hand and forearm. The weakness slowly progresses until spontaneous arrest occurs within 5 years of onset. The condition predominantly affects Asian males and is thought to be secondary to spinal cord compression during neck flexion, because of a forward displacement of the posterior dural sac. The authors present what is to their knowledge the first reported case of a Caucasian male with a severe form of Hirayama disease, suffering from weakness of the leg as well as the forearm. An abnormal range of cervical flexion was observed at the C5–6 level. The patient was successfully treated by anterior cervical discectomy and fusion.

Download Full-text

Hirayama disease

Journal of Neurosurgery Spine ◽

10.3171/2009.12.spine09431 ◽

2010 ◽

Vol 12 (6) ◽

pp. 629-634 ◽

Cited By ~ 28

Author(s):

Muh-Shi Lin ◽

Woon-Man Kung ◽

Wen-Ta Chiu ◽

Rong-Kuo Lyu ◽

Chi-Jen Chen ◽

...

Keyword(s):

Mr Imaging ◽

Young Patients ◽

Sensory Function ◽

Neck Flexion ◽

Imaging Studies ◽

Hirayama Disease ◽

Dynamic Mr Imaging ◽

Cervical Flexion Myelopathy ◽

Dynamic Mr

Object Controversy exists over the choice of surgical candidates and prognosis of Hirayama disease. The purpose of this study was to examine the outcomes of patients with cervical flexion myelopathy who received surgical treatment. Methods A retrospective study was conducted. From May 2002 through December 2006, 6 young patients with cervical flexion myelopathy were seen in the Department of Neurosurgery at Chang Gung Memorial Hospital. The neurological and radiological findings in all 6 patients met the criteria for Hirayama disease. All patients had evidence of a tight dural canal or forward migration of the posterior wall of the dural canal in dynamic MR imaging studies. Five patients were treated with surgical decompressive procedures (4 anterior and 1 posterior) and 1 patient received conservative treatment. Duration of follow-up ranged from 13 months to 4 years. Results Motor function improved in 3 of 5 surgically treated patients and sensory function improved in 2. Neurological symptoms were unchanged in the conservatively treated patient. During follow-up MR imaging in the surgical group, anterior effacement during neck flexion was noted in 1 patient treated with a posterior approach. Conclusions Hirayama disease is so rare that it is easily misdiagnosed. Diagnosis is achieved via clinical presentation, neurophysiological examination, and neuroradiological imaging studies (dynamic MR imaging). The anterior decompressive approach may be better for patients showing anterior effacement and severe cervical kyphosis during neck flexion in MR imaging.

Download Full-text

Nosology of Juvenile Muscular Atrophy of Distal Upper Extremity: From Monomelic Amyotrophy to Hirayama Disease—Indian Perspective

BioMed Research International ◽

10.1155/2013/478516 ◽

2013 ◽

Vol 2013 ◽

pp. 1-12 ◽

Cited By ~ 7

Author(s):

Kaukab Maqbool Hassan ◽

Hirdesh Sahni

Keyword(s):

Upper Extremity ◽

Muscular Atrophy ◽

Original Description ◽

Cervical Cord ◽

Motor Neuron Diseases ◽

Hirayama Disease ◽

Characteristic Appearance ◽

Contrast Magnetic Resonance ◽

Cervical Flexion Myelopathy ◽

Juvenile Muscular Atrophy

Since its original description by Keizo Hirayama in 1959, “juvenile muscular atrophy of the unilateral upper extremity” has been described under many nomenclatures from the east. Hirayama disease (HD), also interchangeably referred to as monomelic amyotrophy, has been more frequently recognised in the west only in the last two decades. HD presents in adolescence and young adulthood with insidious onset unilateral or bilateral asymmetric atrophy of hand and forearm with sparing of brachioradialis giving the characteristic appearance of oblique amyotrophy. Symmetrically bilateral disease has also been recognized. Believed to be a cervical flexion myelopathy, HD differs from motor neuron diseases because of its nonprogressive course and pathologic findings of chronic microcirculatory changes in the lower cervical cord. Electromyography shows features of acute and/or chronic denervation in C7, C8, and T1 myotomes in clinically affected limb and sometimes also in clinically unaffected contralateral limb. Dynamic forward displacement of dura in flexion causes asymmetric flattening of lower cervical cord. While dynamic contrast magnetic resonance imaging is diagnostic, routine study has high predictive value. There is a need to lump all the nomenclatures under the rubric of HD as prognosis in this condition is benign and prompt diagnosis is important to institute early collar therapy.

Download Full-text

Hämophilie-Zentrum Bonn 1980 – 2009

Hämostaseologie ◽

10.1055/s-0037-1619741 ◽

2011 ◽

Vol 31 (S 01) ◽

pp. S4-S10 ◽

Cited By ~ 2

Author(s):

I. Besmens ◽

H.-H. Brackmann ◽

J. Oldenburg

Keyword(s):

Young Patients ◽

Severe Form ◽

Coagulation Disorder ◽

Care Providers ◽

Long Distance ◽

Patient Age ◽

Patient Âgé ◽

Number Of Patients ◽

Clotting Disorder ◽

Regional Character

SummaryThe Bonn Haemophilia Care Center provides patient care on a superregional level. The centre’s large service area is, in part, due to the introduction of haemophilia home treatment and related to this the individualized prophylaxis in children and adults by Egli and Brack-mann in Bonn in the early 1970s, that represented a milestone in German haemophilia therapy. Epidemiologic patient data from the two selected time points, 1980 and 2009, are evaluated to illustrate the change in the composition of the patient clientele. In 1980 a total of 639 patients were treated at the Bonn Haemophilia Center. 529 patients exhibited a severe form and 110 a non-severe form of the respective clotting disorder. In 2009 the Bonn Haemophilia Center took care for a total of 837 patients. There were 445 patients who suffered from a severe form of the considered clotting disorder while 392 showed a non-severe course. The number of less severely affected patients has increased significantly in 2009. Patients in 1980 were predominantly suffering from a severe form and most had to travel more than 150 km from their homes to the treatment center. In 2009 the number of patients living a medium-long distance from the care provider has significantly increased while the number of patients living more than 150km from the center has decreased. Comparing 2009 to 1980 a growth of the center’s regional character becomes apparent, especially when patient age and severity of the coagulation disorder are taken into consideration. The regional character was more strongly pronounced with milder disease severity and lower patient age. Due to the existence of well established primary haemophilia care in CCCs in Germany, the trend for the recent years is that the proportion of young patients that choose haemophilia care providers closer to their homes is increasing.

Download Full-text

The Immunological Properties of Factor VIII

Thrombosis and Haemostasis ◽

10.1055/s-0038-1655645 ◽

1966 ◽

Vol 16 (03/04) ◽

pp. 559-573 ◽

Cited By ~ 1

Author(s):

L Uszyński

Keyword(s):

Factor Viii ◽

Inhibitory Activity ◽

Hemophilia A ◽

Severe Form ◽

Molecular Defect ◽

Bovine Plasma ◽

Human Factor Viii ◽

Antigenic Properties ◽

Coagulation Tests ◽

Normal Human

SummaryRabbits immunized against human AHG fibrinogen-free preparations, were shown to produce anti-AHG antibodies. The inhibitory activity of these antibodies was tested by thromboplastin generation test, thrombelastography, and the specific anti-AHG antibodies neutralization test. The latter test permitted quantitative determination of antigenic form of factor VIII. The inhibitory activity of anti-FI-O-Ta serum resulted exclusively from the anti-AHG antibodies which in coagulation tests behaved like circulating anticoagulants directed against factor VIII.The anti-AHG antibodies were neutralizable by normal human serum or plasma even contained only trace of AHG activity after storage. There was no antigenic form of factor VIII in the severely affected patients with hemophilia A, von Willebrand’s disease nor in the normal plasma adsorbed on bentonite. The presented results suggest a molecular defect of factor VIII in patients with hemophilia A. The severe form of this disease depends, probably, on a major impairment of AHG biosynthesis, leading to changes in the antigenic properties of the molecule. The AHG from rabbit, porcine and bovine plasma respectively did not neutralize the anti-AHG antibodies formed in rabbits immunized against human factor VIII preparations.

Download Full-text

Review for "Homozygous loss‐of‐function mutations in CCDC134 are responsible for a severe form of osteogenesis imperfecta"

10.1002/jbmr.4011/v1/review2 ◽

2019 ◽

Keyword(s):

Osteogenesis Imperfecta ◽

Severe Form ◽

Loss Of Function

Download Full-text

The diagnosis and management of ocular myasthenia gravis

East European Journal of Parkinson`s Disease and Movement Disorders ◽

10.33444/2414-0007.5.1-2.3-8 ◽

2019 ◽

Vol 5 (1-2) ◽

pp. 3-8

Author(s):

Gordon Plant

Keyword(s):

Myasthenia Gravis ◽

Severe Form ◽

Differential Diagnostics ◽

Diagnosis And Management ◽

Ocular Myasthenia ◽

Clinical Presentations ◽

Ocular Myasthenia Gravis

Ocular myasthenia is not the most severe form of myasthenia but it might cause certain difficulties to diagnose. In this article, we shall discuss the clinical presentations of ocular myasthenia, its differential diagnostics, examinations and management. Keywords: ocular myasthenia gravis, diagnosis, examination, management.

Download Full-text