Mitsuru YAMADA (X-A Translocation in Female Duchenne Muscular Dystrophy)

IRYO Vol. 42(1) X-A TRANSLOCATION IN FEMALE DUCHENNE MUSCULAR DYSTROPHY Kumiko ITO and Mitsuru YAMADA (Michikawa-Byoin National Sanatorium, Akita) Remarkable progress of cytogenetic study and technique provided an information on the contribution of detectable structural abnormalities of X-chromosome. In particular, cases of female Duchenne muscular dystrophy with X-autosome translocation were increasingly reported both from abroad and at home. More than 16 cases have been reported so far. We report here an additional case of DMD (or BMD) in a female carrier of an apparently balanced translocation t (x;2) (p21.2;821.1) and studied comparatively 17 cases including present cases and discussed the significance of X-A T in female DMD. WALK WITH TWO CANES IN PARKINSONISM-A USE OF Tsutomu KAWAMURA, Masaaki NAGATA, Hajime YAMAGATA, Kensuke SAKAMOTO and Shoji NAKAYAMA (Murayama Byoin National Sanatorium, Tokyo) We experienced a parkinsonian patient with severe disturbance of gait mainly due to freezing gait resistant to levodopa therapy but improved in walking with two canes. The patient was a 71-year-old male and had 2-year history of parkinsonism secondary to cerebrovascular accident. On admission, he had difficulty in walking by himself because of freezing phenomenon. He could walk but slowly and step by step with a cane. Mild muscular rigidity was present in the neck and four extremities. Neither resting tremor nor involuntary movement was noted. He received amantadine, 200 mg/day and levodopa in gradually increasing dosage. With the therapy, rigidity was completely relieved but freezing remained unchanged. Therefore, we tried to make him walk with two canes on both sides. He held two canes in each hand and brought each cane forwardly alternatively followed by opposite-side foot. An average time of walk by this method was significantly decreased than that of conventional walk with a cane. Freezing phenomenon is one of the most troublesome problems in the treatment of parkinsonism and frequently rather worsens with increasing doses of levodopa. Recently, it is reported that L-threo-DOPS, precursor of noradrenaline, was effective for freezing symptoms. Though it has been tried in some institutions, its usage is not yet popularized. The patient was severely difficult in walking, whereas he was easy to walk when crossing KINESIE PARADOXALE FOR FREEZING GAIT- -11-

Mitsuru YAMADA (X-A Translocation in Female Duchenne Muscular Dystrophy)

Table 1 Published females with Duchenne muscular dystrophy and X-A translocation

IRYO Vol.42(l) Fig.2 性DMDに 独 特 で あ り, 男 性DMDに は な いが, それ がautosomal Karyotype つ い ての 報 告 heredityで あると断 定 す る根 拠 とは な らな い で あ ろ う. ま た女 性DMDのX-ATの も, や やmildで X-ATの な ど重 症 度 の 違 い の な い 例 あ る と思 わ れ る症 例 も あ る. ま た な い 女 性bMDも あ る. 著 者 ら の 症 例 は20才 は るか に多 い わ け で 例4)の ご と く, 進行 経過 な どが 緩 徐 で あ り, DMDと い うに は良 牲 す ぎ る感 が あ り, 現 今 の 分 の 点 か ら もDMDとBMDは De novo translocation}こ 正 常 遺 伝 活 動 をdisruptし て, よ り DMD 発 現 が お こつ た と 考 え る の が 大 方 の 意 見 で あ る. し か しX関 男 性DMDで 連 で あ る こ と も 事 実 な の で, もsporadicの 例 でCPKが 父 な ど で 正 常 で あ る こ と の み で, 母, X-linked 姉 妹, heredity を 否 定 す る こ と に は な ら な い で あ ろ う. 染 色 体 分 析 はBMLの 進 行 度 の 違 い の み で, 症 例.1)をの ぞ いて は 母 のCPKは て正 常 範 囲 で あ り, noncarrierで, すべ sporadicの 御 厚 意 に よ つ て 行 わ れ た. 文 属 す べ き もの と考 え られ る. こ 遺 伝 的 に は同 様 の もの で はな い か と考 え させ られ る. Verellenの DMD-geneの で なお 歩 行 して い る Verellenの 類 か らす れ ばBMDに 例 ば か り で あ る が, phenotypeの 報 告 例 は 男 性DMD と病 状経 過 進 行CPK値 of patient 1) Greenstein, R. location dystrophy. in a girl 268, 献 M.:An (X;11) with Duchenne Cytogenet. Cell. transmuscular Genet., 1980-77- 27,

Jan, 1988 2) Macleod, P. M.:Duchenne muscular dystrophy in a female with an X autosome translocation. J. Hum. Genet., 35, 104A, 1983 3) Emanuel, B. S.:Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus;x;9 translocation in a female with DMD. J. Med. Genet., 20, 461, 1983 4) Ch. Verellen-Dumoulin:Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum. Genet., 67, 115, 1984 5) Nielsen, L. B.:X;autosome translocation in a girl with muscular dystrophy. Clin. Genet., 23, 242, 1983 6) Canki, N.:Dystrophie musculaire de Duchenne Chez une ptite fille porteuse d'une translocation t(x;3) (p21;q13) de novo. Ann. Genet., 22, 35, 1979 7) Zatz, M.:Translocation (X;6) in a female with Duchenne muscular dystrophy;implications for the localization of the DMD locus. J. Med. Genet., 18, 442, 1981 8) Lindenbaum, R. H.:Muscular dystrophy in an X;1 translocation female suggests that Duchenne locus is on X-chromosome short arm. J. Med. Genet., 16, 389, 1979 9) Jacobs, P. A.:Duchenne muscular dystrophy (DMD) in a female with an X-autosome translocation:further evidence that the DMD locus is a Xp21. Genet., 33, 515, 1981 Am. J. Hum. 10) Nielsen, L. B.:Turner's syndrome and Duchenne muscular dystrophy in a girl with an X;autosome translocation. Ann. Genet., 27, 173, 1984 11) Nevin, N. C.:Duchenne muscular dystrophy in a female with a translocation involving Xp21. J. Med. Genet., 23, 171, 1986 12) Saito, F.:High-resolution banding study of an X-4 translocation in a female with Duchenne muscular dystrophy. Hum. Genet., 71, 370, 1985-78-