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European Journal of Neurology 2004, 11: 567–568

SHORT COMMUNICATION

Flail arm syndrome: a clinical variant of amyotrophic lateral sclerosis


A. Czaplinskia, A. J. Stecka, P. M. Andersenb and M. Weberc
a
Department of Neurology, University of Basel, Basel, Switzerland; bDepartment of Clinical Neurosciences, University of Umea, Umea,
Sweden; cDepartments of Neurology, Kantonsspital St Gallen, St Gallen, Switzerland

Keywords: We describe a case of a 65-year old patient diagnosed with amyotrophic lateral
amyotrophic lateral sclerosis. The clinical findings, with symmetric, predominantly proximal wasting and
sclerosis, flail arm syn- weakness of both arms (especially of the infra-, supraspinatus and deltoideus) leading
drome, motor neuron to severe functional disability and contrasting with preserved independent ambulation
disease and sparing of bulbar muscles, were consistent with the proposed criteria of the so-
called flail arm syndrome. Based on our case we characterize the clinical features of
Received 12 September 2003 flail arm syndrome and review the literature.
Accepted 15 January 2004

A 65-year-old male patient presented with a 6-month the upper limbs. Deep tendon reflexes were absent in
history of symmetrical, slowly progressive wasting and the upper and hyperactive without clonus in the lower
weakness of his arms but no significant functional limbs. The jaw jerk and abdominal reflexes were nor-
involvement of other regions. No other family members mal. Plantar responses were flexor bilaterally. Sensory
were affected. Past history was unremarkable. Neuro- functions were normal. Electrophysiological evaluation
logical examination at the time of presentation revealed revealed normal motor and sensory nerve conduction
symmetric, predominantly proximal wasting and studies in four tested limbs with no evidence of con-
weakness of both arms (especially of the infra-, supra- duction block. The F-wave latencies were normal.
spinatus and deltoideus) leading to severe functional Needle electromyography (EMG) showed signs of acute
disability (Figs 1–3). The upper limbs adopted a char- and chronic denervation and fasciculations in all limbs.
acteristic position, with the shoulders slumped, and the Motor-evoked potentials, cerebrospinal fluid (CSF)
arms, forearms, and hands pronated. Bulbar and leg
mucles were not affected. Fasciculations were noted in

Figure 1 Sixty-five year-old patient with symmetric pre-


dominantly proximal wasting and weakness of both arms diag-
nosed with flail arm syndrome: a clinical variant of amyotrophic
lateral sclerosis (back view).

Correspondence: Dr A Czaplinski, Department of Neurology,


University of Basel, Petersgraben 4, Basel 4031, Switzerland
(tel: 41 61 262 2525; fax: 41 61 265 4100; e-mail: aczaplinski@uhbs.ch). Figure 2 Side view.

Ó 2004 EFNS 567


568 A. Czaplinski et al.

of bulbar and lower limb muscles in early stages of


the disease. However, in the past, other terms have
been used to describe probably the same rare clinical
form of ALS; e.g. the scapulohumeral ALS form or
the Vulpian-Bernart’s form of ALS (Gamez et al.,
1999, 2000). Interestingly, a coexistence between flail-
arm syndrome and degenerative cervical spondylosis
has been described in a large number of patients
(Sasaki and Iwata, 1999). In fact, this coexistence may
lead to diagnostic difficulties. In these patients, the
presence of bulbar signs and the absence of sensory
symptoms can be helpful to distinguish whether the
proximal muscle wasting and atrophy result from
motor neurone disease or are due to cervical abnor-
malities (Gamez et al., 2000). The presence of upper
motor neurone signs, the different pattern of muscle
atrophy, and the occasional appearance of bulbar
signs at follow-up may be helpful to clinically distin-
guish the flail-arm syndrome from other motor neur-
one syndromes such as spinal muscular atrophy,
Kennedy’s disease, multifocal motor neuropathy, and
monomelic amyotrophy (Gamez et al., 1999). How-
ever, in our opinion, genetic testing for spinal mus-
cular atrophy (SMA), molecular biological studies
Figure 3 Angled view.
including search for abnormal trinucleotide (CAG)
repeat expansion of androgen receptor gene, diag-
examination and a magnetic resonance imaging (MRI) nostic tests to rule out a mitochondrial disorder or
of the cervical spine were normal. IgM anti-GM1 even a muscle biopsy should be performed, too. The
antibodies were negative. There were no abnormal much higher preponderance in males (9–3:1 ratio) (Hu
expansion of trinucleotide (CAG) repeat of the andro- et al., 1998; Sasaki and Iwata, 1999) suggests that
gen receptor gene and no mutation in the Cu/Zn genetic factors linked to male sex predispose a pro-
superoxide dismutase gene (SOD1). The revised portion of patients to develop the flail-arm syndrome.
El-Escorial criteria allowed the diagnosis of probable Based on our limited data with a short follow-up
laboratory supported amyotrophic lateral sclerosis period in addition to other reported cases, the prog-
(ALS). However, the overall clinical presentation with nosis of flail-arm syndrome seems to be better than in
predominantly proximal muscular atrophy and weak- typical Charcot ALS (Couratier et al., 2000).
ness of the upper limbs, contrasting with preserved References
independent ambulation and sparing of bulbar muscles
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limbs distally, involving mainly the small hand muscles Vulpian-Bernhart’s form of amyotrophic lateral sclerosis.
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persisted in the lower limbs but the patient was still amyotrophic lateral sclerosis: a new term to define a
ambulatory. Moreover, a subsequent appearance of previously known form of ALS. J Neurol Neurosurg
mild speech and swallowing difficulties has been noted Psychiatry 68:118–119.
at follow-up. Hu MTM, Ellis CM, Al-Chalabi A, Leigh PN, Shaw CE
The term flail-arm syndrome was coined by Hu (1998). Flail arm syndrome: a distinctive variant of amyo-
trophic lateral sclerosis. J Neurol Neurosurg Psychiatry
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patients with common signs of lower motor neurone Sasaki S, Iwata M (1999). Atypical form of amyotrophic
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Ó 2004 EFNS European Journal of Neurology 11, 567–568