Progressive Hand Weakness Research Articles

Hirayama disease. Clinical cases

Hirayama disease, or monomelic amyotrophy, is a rare neurological pathology manifested by unilateral or bilateral asymmetric paresis with atrophy of the distal upper extremities. The development of this disease is associated with the forward displacement of the posterior dural sac during neck flexion, which leads to compression of the spinal cord and venous stasis. The diagnosis of monomelic amyotrophy is based on the clinical picture and the results of magnetic resonance imaging of the cervical spine with flexion, showing segmental atrophy of the anterior horns of the spinal cord at C7 — Th1, detachment of the posterior dura mater and venous stasis. Most of the cases described in the literature are from India and Japan, with isolated cases diagnosed in North America and Europe. This article presents two clinical cases of progressive hand weakness in young men. The clinical picture of the disease and the results of additional examination methods are presented, which is necessary to establish a diagnosis of Hirayama’s disease.

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.

To describe in detail the clinical profile of Charcot-Marie-Tooth disease subtype 3 (CMTX3) to aid appropriate genetic testing and rehabilitative therapy. We reviewed the clinical and neurophysiologic profile and CMT Pediatric Scale (CMTPedS) assessments of 11 children with CMTX3. Compared with the more common forms of CMT, CMT1A and CMTX, CMTX3 was characterized by early onset with early and progressive hand weakness. Most affected children were symptomatic within the first 2 years of life. The most common presentation was foot deformity in the first year of life. CMTPedS analysis in these children revealed that CMTX3 progressed more rapidly (4.3 ± 4.1 points over 2 years, n = 7) than CMT1A and CMTX1. Grip strength in affected boys was 2 SDs below age- and sex-matched normative reference values (z score -2.05 ± 1.32) in the second decade of life. The most severely affected individual was wheelchair bound at 14 years of age, and 2 individuals had no movement in the small muscles of the hand in the second decade of life. Nerve conduction studies showed a demyelinating sensorimotor neuropathy with motor conduction velocity ≤23 m/s. CMTX3 had an earlier onset, severe hand weakness, and more rapidly progressive disability compared to the more common forms of CMT. Understanding the unique phenotype of CMTX3 is essential for directing genetic testing because the CMTX3 insertion will not be seen on a routine microarray or neuromuscular gene panel. Early diagnosis will enable rehabilitation to be started early in this rapidly progressive neuropathy.

O210 Abnormal movements mimicking tremor in amyotrophic hands in adults

Adult patients presenting with slowly progressive hand weakness and wasting (HWW) without signs of upper motor neuron involvement and unconvincing cervical MRI signs of disk protrusion are a diagnostic challenge. Clinical and electrophysiological follow-up is needed to reach the most probable diagnosis. Objective We describe 4 adult patients who presented with HWW and involuntary tremor-like movements of the thumb. Methods We performed electrodiagnostic testing (EDX) two times, between 3 and 6 months and 12 and 24 months, after onset of symptoms. Cranial and cervical magnetic ressonance and laboratory workout were performed in all patients. Results Hyposthesia in the ulnar territory was the most common complaint that did not change between consultations. Muscle strength was decreased in fingers abduction-adduction movements. Thumb tremor was present and correlated with fasciculations in thenar and interossei muscles. The compound muscle and sensory nerve action potentials were reduced in median and ulnar nerves. We observed denervation signs in thenar and hypothenar muscles but not in biceps. The EDX signs did not change in the second examination. Conclusion Fasciculations in wasted hand muscles may induce involuntary movements mimicking tremor. Stabilization of symptoms and neurophysiological data favor spinal cord focal lesions over motor neuron disease.

P.092 Hirayama Disease: a diagnostic and therapeutic challenge

Background: Hirayama disease (HD) is characterized by progressive cervical myelopathy caused by repetive neck flexion leading to forward displacement of the posterior dural sack with compression and injury of the spinal cord. Typically, the C7-T1 myotomes become weak and atrophic, while sparing sensation. Here we present two Canadian cases of this rare entity. Methods: Two cases of HD are presented and literature reviewed, showing the diagnostic and therapeutic challenges of this disease. Results: Case 1 is a 17-year-old male professional singer and musician. He presented with bilateral progressive hand weakness, which was aggrevated while playing the violine. Cervical MRI showed increased T2-weighted signaling at C5-7, but a correct diagnosis could not be identified. Eventually, dynamic cervical MRI showed the compression and he underwent an anterior cervical discectomy and fusion (ACDF) at C5-C6 and C6-C7 without complications. Case 2 is a 19-year-old female with progressive right hand weakness. After numerous investigations, a dynamic cervical MRI diagnosed her with HD with classic findings and she underwent an ACDF at C6-C7 without complications. Conclusions: Hiryama’s disease is rare, but should be kept in mind when cervical cord signal changes cannot be explained by standard MRI. Dynamic MRI is imperative to correct diagnosis and anterior fusion shows good outcomes in its management.

Sonographic diagnosis of true neurogenic thoracic outlet syndrome

A 32-year-old woman presented with a 5-year history of left shoulder pain, medial hand and forearm numbness, and progressive hand weakness and atrophy. Electrodiagnostic studies were characteristic of true neurogenic thoracic outlet syndrome,1 and a chest X-ray showed bilateral elongated C7 transverse processes. High-resolution ultrasound studies revealed compression of the left lower trunk (LT) between a fibrous band and artery (figure, A). Magnetic resonance neurography (figure, B) and operative exploration (figure, C) confirmed the ultrasound findings. Clinical improvement was noted following surgical neurolysis of the LT. High-resolution ultrasound may be a useful and quick bedside tool to identify causative structural pathology in this classic neuromuscular disorder.

Teaching Neuro Images : Neurogenic thoracic outlet syndrome

A 64-year-old man presented with a 5-month history of right neck and arm pain followed by progressive hand weakness. Cervical X-rays and MRI were normal. EMG disclosed lower trunk brachial plexopathy. Magnetic resonance (MR) neurography revealed right brachial plexus distortion with thickening of

A rare anterior spinal epidural cyst mimicking Hirayama disease

Hirayama disease is a rare focal motor neuron disorder that manifests as slowly progressive unilateral or bilateral hand weakness and atrophy. The case report of a young man who presented with the phenotype of Hirayama disease indicated an extensive anterior cervical epidural arachnoid cyst. A 34-year-old man presented with a 5-year history of slowly progressive hand and forearm weakness and atrophy. Nerve conduction studies demonstrated low median and ulnar motor amplitudes, and EMG demonstrated fibrillation potentials and long-duration, high-amplitude motor unit potentials in C6-T4-innervated muscles. MRI demonstrated a longitudinally extensive anterior spinal epidural cyst extending from C2 to L1. The patient had improved hand strength after surgery. Anterior cervical epidural spinal cysts should be considered in the differential diagnosis in patients who present with slowly progressive hand weakness.

Weak hands from a flexed neck

An 18-year-old man presented with 2 years of progressive hand weakness. Two routine cervical MRIs were normal. Examination demonstrated weakness and atrophy in left C7–8 myotomes, and weakness in right C7–8 myotomes. The examination was otherwise normal. EMG demonstrated fibrillation potentials and neurogenic motor unit potentials …