Hirayama Disease

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VIDEO CASE SOLUTION VIDEO CASE SOLUTION Hirayama Disease BY AZIZ SHAIBANI, MD, FACP, FAAN, FANA Last month’s case presented a 21-year-old shrimp peeler who developed weakness of his fingers five years earlier that pro- gressed to a point where he was unable to perform his job. CPK and 530 U/L and EMG revealed chronic diffuse denervation of the arms and muscles with normal sensory and motor responses. Watch the exam at PracticalNeurology.com. Chronic unilateral or bilateral pure motor weakness of the hand and muscles in a young patient is not common. DIFFERENTIAL DIAGNOSIS • Cervical cord pathology such as Syringomyelia: dissociated sensory loss is typically present. • Brachial plexus pathology: sensory findings are usually present. • Motor neurons disease: ALS, spinal muscular atrophy (SMA). – Cervical Spines are usually investigated before neuromuscular referrals are made. – The lack of pain, radicular or sensory symptoms and normal sensory SNAPS and cervical MRIs ruled out most of the mentioned possibilities except: • distal myopathy (usually not unilaterial) and spinal muscular atrophy. • EMG/NCS demonstration of chronic distal denervation with normal sensory responses and no demyelinating features lim- ited the diagnosis to MND. • Segmental denervation pattern further narrows the diagnosis to Hirayama disease (HD). HIRAYAMA DISEASE • HD is a sporadic and focal form of SMA that affects predominantly males between the ages of 15 and 25 years. • Weakness and atrophy usually starts unilaterally in C8-T1 muscles of the hands and forearm (typically in the dominant hand). – In roughly one-third of cases, the other hand is affected and weakness may spread to the proximal muscles. – DTRs are normal or brisk, unlike most SMA cases where the reflexes are decreased or absent. – After progressive course of six years or less, the progression plateaus. – Extreme exacerbation of weakness in the cold and focal hyperhidrosis are reported. – The disease is more common in India. • Hypothesis: Radiological forward displacement of the cervical dural sac and compressive flattening of the cervical cord during flexion suggest that this is a form of cervical myelopathy. The resulting ischemia leads to preferential damage of the motor neurons. Decompressive surgery is unlikely to be effective due to the chronic nature of the neurological insult. Hirayama K, Tokumaru Y. Cervical durac sac and spinal cord in juvenile muscular atrophy of distial upper extremity. Neurology. 2000; 54: 1922-1926. 50 PRACTICAL NEUROLOGY SEPTEMBER 2015.

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Table of Contents
TABLE OF CONTENTS 1. INTRODUCTION . Faculty . Program 2. GUIDELINES . Fellowship Appointments . Fellow Selection 3. REQUIREMENTS . UAB Child Neurology Training Requirements . Call Requirements . Moonlighting Policy . ACGME Duty Hours . Policy on Fatigue . ABPN Training Requirements 4. GOALS AND OBJECTIVES . Overall Program Goals and Objectives . Adult Year PG3-PG4 . Inpatient PG4 . Inpatient PG5 . Outpatient . Neuromuscular . Epilepsy . Neuropathology . Psychiatry . Conferences . Required Research Survey Course 5. CURRICULUM IN CHILD NEUROLOGY . Purpose . Structure . Content 6. SALARY AND BENEFITS 7. CRITERIA FOR ADVANCEMENT . Educational Expectations . Disciplinary Procedures . Grievance Procedure 8. EVALUATIONS . Supervision of Fellows Policy . Fellow Evaluations . Attending Evaluations . Program Evaluations . Peer and Self Evaluations . Healthcare Professional Evaluations INTRODUCTION: Child Neurology is a specialty of both pediatrics and neurology which focuses on the nervous system of the pediatric population. The practice of child neurology requires competence and training in both pediatrics and neurology in order to understand and treat disorders of the pediatric nervous system. This manual outlines the goals and expectations as well as logistics of the Child Neurology training program at The University of Alabama at Birmingham. A. Clinical competence requires: 1. A solid fund of basic and clinical knowledge and the ability to maintain it at current levels for a lifetime of continuous education. 2. The ability to perform an adequate history and physical examination. 3. The ability to appropriately order and interpret diagnostic tests. 4. Adequate technical skills to carry out selected diagnostic procedures. 5. Clinical judgment to critically apply the above data to individual patients. 6. Attitudes conducive to the practice of neurology, including appropriate interpersonal interactions with patients and families, professional colleagues, supervisory faculty and all paramedical personnel.
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1 Sensory Disturbances
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