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Tongue atrophy in facioscapulohumeral muscular dystrophy

G. Yamanaka, MD;, K. Goto, BS;, T. Matsumura, MD;, M. Funakoshi, MD;, T. Komori, MD;, Y. K. Hayashi, MD; and K. Arahata, MD

Deceased.
From the Department of Neuromuscular Research (Drs. Yamanaka, Matsumura, Hayashi, Arahata, and K. Goto), National Institute of Neuroscience, NCNP; Department of Pediatrics (Dr. Yamanaka), Tokyo Medical University; Department of Rehabilitation Medicine (Dr. Funakoshi), Jikei University School of Medicine; and Department of Neurology (Dr. Komori), Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.

Address correspondence and reprint requests to Dr. Yukiko K. Hayashi, Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, 4-1-1 Ogawa-higashi, Kodaira, Tokyo, 187-8502, Japan; e-mail: hayasi_y @ncnp.go.jp

Involvement of the lingual muscle is considered one of the exclusion criteria of facioscapulohumeral muscular dystrophy (FSHD). In a series of 151 Japanese patients with 4q35-FSHD, seven patients (4.6%) had tongue atrophy with abnormal MRI findings and typical myogenic patterns of electromyography. All seven patients belong to a group of early-onset FSHD with large gene deletions on chromosome 4q35. Our result suggests that the patients with 4q35-FSHD could have myopathic tongue atrophy.

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