Juvenile muscular atrophy of a unilateral upper extremity (Hirayama disease) in a patient with CHARGE syndrome

Molecular Syndromology

Volumn 1, Issue 2, 2010, Pages 91-94

  Yagihashi, T ^a   Hatori, K ^b,c   Ishii, K ^a   Torii, C ^a   Momoshima, S ^a   Takahashi, T ^a   Kosaki, K ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c KOTO HOSPITAL   (Japan)

Author keywords

CHARGE syndrome; CHD7; Hirayama disease

Indexed keywords

CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7 PROTEIN; NUCLEIC ACID BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALOPECIA; ARM DISEASE; ARTICLE; ATROPHY; BODY HEIGHT; BODY WEIGHT; BRONCHITIS; CASE REPORT; CHOANA ATRESIA; COLOBOMA; CONGENITAL DISORDER; CONJUNCTIVITIS; CRANIAL NEUROPATHY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DNA SCREENING; EAR MALFORMATION; FACE ASYMMETRY; FACIAL NERVE PARALYSIS; GENE MUTATION; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HEARING LOSS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HIRAYAMA DISEASE; HUMAN; INGUINAL HERNIA; JAPANESE; JUVENILE; LASER SURGERY; MALE; MENTAL DEVELOPMENT; METAMORPHOSIS; MUSCLE ATROPHY; MYRINGOTOMY; NEUROLOGIC EXAMINATION; NEWBORN HYPOXIA; OTITIS MEDIA; PHYSICAL EXAMINATION; PHYSIOTHERAPY; PRIORITY JOURNAL; SCOLIOSIS; SYNDROME CHARGE; TREMOR; VERBAL BEHAVIOR; WEAKNESS;

EID: 79952166253     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000315525     Document Type: Article

References (14)

1. Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, et al: Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr 148: 410-414 (2006).
2. Badve C, Pruthi S: Hirayama disease. Pediatr Radiol (2009), E-pub ahead of print.
3. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, et al: CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 37: 159-173 (1998).
4. Chen CJ, Hsu HL, Tseng YC, Lyu RK, Chen CM, et al: Hirayama flexion myelopathy: neutralposition MR imaging findings-importance of loss of attachment. Radiology 231: 39-44 (2004).
5. Doyle C, Blake K: Scoliosis in CHARGE: a prospective survey and two case reports. Am J Med Genet A 133A:340-343 (2005).
6. Hirayama K, Tokumaru Y: Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper extremity. Neurology 54: 1922-1926 (2000).
7. Misra UK, Kalita J, Mishra VN, Kesari A, Mittal B: A clinical, magnetic resonance imaging, and survival motor neuron gene deletion study of Hirayama disease. Arch Neurol 62: 120-123 (2005).
8. Nalini A, Lokesh L, Ratnavalli E: Familial monomelic amyotrophy: a case report from India. J Neurol Sci 220: 95-98 (2004).
9. Pagon RA, Graham JM Jr, Zonana J, Yong SL: Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99: 223-227 (1981).
10. Raven JC, Court JH, Raven J: Manual for the Raven's Coloured Progressive Matrices. Nihon Bunka Kagakusha, Tokyo (1993).
11. Schlegel U, Jerusalem F, Tackmann W, Cordt A, Tsuda Y: Benign juvenile focal muscular atrophy of upper extremities - a familial case. J Neurol Sci 80: 351-353 (1987).
12. Sobue I, Saito N, Iida M, Ando K: Juvenile type of distal and segmental muscular atrophy of upper extremities. Ann Neurol 3: 429-432 (1978).
13. Tandan R, Sharma KR, Bradley WG, Bevan H, Jacobsen P: Chronic segmental spinal muscular atrophy of upper extremities in identical twins. Neurology 40: 236-239 (1990).
14. Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, et al: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36: 955-957 (2004).