Hirayama Disease.pptx

Hirayama Disease

1. Hirayama Disease Ade Wijaya , MD – October 2022

2. Introduction Previously known as non-progressive juvenile spinal muscular atrophy, juvenile muscular atrophy of the distal upper extremity, monomelic amyotrophy and juvenile asymmetric segmental spinal muscular atrophy first described by Keizo Hirayama in 1959 Rare M:F = 20:1 Onset: aged in their teens or twenties No clear familial relationship Prevalent in Asia, esp. India Kieser , D.C., Cox, P.J. & Kieser , S.C.J. Hirayama disease.  Eur Spine J   27 , 1201–1206 (2018).

3. Symptoms Insidious onset Initially progressive, muscular weakness of the distal upper limbs particularly affecting the strength of the wrist and fingers with preservation of brachioradialis The symptoms are most commonly unilateral, occasionally bilateral, but asymmetric, and rarely symmetrically bilateral. Over 95% of patients feel that their weakness worsens in cold environments, termed cold paraparesis Hirayama K (2000) Juvenile muscular atrophy of distal upper extremity (Hirayama disease). Int Med 39(4):283–290

4. Signs progressive muscular wasting and weakness of the hands and forearms, with preservation of brachioradialis , giving the characteristic oblique border of muscular atrophy on both the volar and dorsal forearms, described as oblique amyotrophy Fasciculations are identifed when the afected muscles contract, termed contraction fasciculations Hirayama K (2008) Juvenile muscular atrophy of unilateral upper extremity (Hirayama disease)—half-century progress and establishment since its discovery. Brain Nerve 60(1):17–29

5. Investigations MRI in full cervical fexion Classic crescent-shaped lesion with high signal intensity on T1 and T2 images in the posterior epidural space, thought to represent dilation and congestion of the posterior internal vertebral venous plexus Pradhan S, Gupta RK (1997) Magnetic resonance imaging in juvenile asymmetric segmental spinal muscular atrophy. J Neurol Sci 146(2):133–138 Hirayama K, Tokumaru Y (2000) Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper extremity. Neurology 54(10):1922–1926 7. Tokumaru Y, Hirayama K (1989) Anterior shift of posterior lower cervical dura mater in patients with juvenile muscular atrophy of unilateral upper extremity. Clin Neurol 29:1237–1243

6. Investigations CT myelogram with the neck in the neutral position reveals mild to moderate atrophy of the lower cervical cord in 88% of patients Furthermore, anterior displacement of the spinal cord with antero -posterior fattening of the cord in neck fexion is seen in 88% of patients with myelography and 94% of patients with CT myelography Hirayama K, Tokumaru Y (2000) Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper extremity. Neurology 54(10):1922–1926 7. Tokumaru Y, Hirayama K (1989)

7. Investigations Nerve conduction studies, muscle biopsy and cerebrospinal fuid (CSF) analysis may be used to exclude other conditions Electrophysiology: denervation Muscle biopsy: atrophic changes and evidence of reinnervation with clusters of small angular fbres and large type groupings CSF biochemical analysis is usually normal, but may show a mild increase in the protein content (40–60 mg/dl; normal Kieser , D.C., Cox, P.J. & Kieser , S.C.J. Hirayama disease.  Eur Spine J   27 , 1201–1206 (2018).

8. Differential Diagnosis Motor neuron disease Spinal muscular atrophy Spinal cord infarct T ephromalacie anterieur Hirayama K (2008) Juvenile muscular atrophy of unilateral upper extremity (Hirayama disease)—half-century progress and establishment since its discovery. Brain Nerve 60(1):17–29 Elsheikh B, Kissel JT, Christoforidis G et al (2009) Juvenile muscular atrophy of the distal arm “Hirayama disease”. Muscle Nerve 40(2):206–212

9. Treatment & Prognosis Cervical collar to prevent neck fexion Surgical The disease is most commonly self-limiting with spontaneous arrest after initial progression of up to 6  years The forward displacement of the dural sac and tightening of the spinal cord seen on the fexion MRI reduces with time and corresponds to the clinical course of the disease Over 60% of patients will show spontaneous arrest of progression within 3 years and 85% within 5 years of diagnosis With a cervical collar to prevent neck fexion , most will cease progression and some may improve muscular strength and resolution of cold paraparesis Hirayama K (2000) Juvenile muscular atrophy of distal upper extremity (Hirayama disease). Int Med 39(4):283–290 Tashiro K, Kikuchi S, Itoyama Y et al (2006) Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan. Amyotroph Lateral Scler 7(1):38–45 Tokumaru Y, Hirayama K (1992) A cervical collar therapy for nonprogressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama’s disease). Clin Neurol 32:1102–1106

10. Summary Rare, more common in male in teens or twenties Asymmetric progressive , muscular weakness of the distal upper limbs affecting wrist and fingers Muscular wasting, weakness, fasciculations Investigation: MRI in full cervical flexion Treatment: Cervical collar to prevent neck fexion & Surgical The disease is most commonly self-limiting with spontaneous arrest after initial progression of up to 6  years

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