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Atypical form of amyotrophic lateral sclerosis: a new term to define a previously well known form of ALS
  1. JOSEP GAMEZ,
  2. CARLOS CERVERA,
  3. AGUSTIN CODINA
  1. Servicio de Neurologia, Hospital Gral, Universitari Vall d‘Hebron, Passeig Vall d’Hebron 119–135, 08035 Barcelona, Spain
  1. Dr Josep Gamez, Servicio de Neurologia, Hospital Gral, Universitari Vall d‘Hebron, Passeig Vall d’Hebron 119–135, 08035 Barcelona, Spain. email: 12784jgc{at}comb.es
  1. SHOICHI SASAKI
  1. Department of Neurology, Neurological Institute, Tokyo Women's Institute, Tokyo Women's Medical College, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan

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    We read with interest the article by Sasakiet al 1 concerning the atypical form of amyotrophic lateral sclerosis (ALS). The pattern of muscular atrophy in these patients differed from that of typical ALS in that severe muscle involvement was confined to the upper limbs, predominantly the proximal portion and shoulder girdle, sparing the face and the legs until late in the disease's course or until the terminal stage.

    Over the past few years, we have noticed a growing interest in the renaming of this clinical form of ALS, which has its origins and predomination in the proximal muscles and upper limbs and little or no effect of either a bulbar nature or in the lower limbs.

    Thus Hu et al 2 coined the term flail arm syndrome, to describe a subgroup of patients affected by ALS that predominantly showed signs of lower motor neuron disease in the upper limbs, without significant functional involvement of other regions on clinical presentation. This subgroup of patients was clinically characterised by the display of progressive atrophy and weakness affecting the proximal muscles in the upper limb muscles in a more or less symmetric manner.

    Recently, along these lines, Katz et al 3 described a series of patients affected by an adult onset motor neuron disorder restricted to the upper limbs, with severe proximal and varying degrees of distal involvement, calling it amyotrophic brachial diplegia syndrome.

    Other terms used in the past to refer to this form of ALS have been dangling arm syndrome, suspended form, orangutan sign, dead arm sign, bibrachial palsy, rizomelic amyotrohy, and the idea of naming it a distinctive phenotype of a neurogenic “man-in-the-barrel” syndrome has even been suggested.

    Probably all these terms used to define this variation of ALS are synonyms for an older, well known condition, the scapulohumeral form, or the chronic anterior poliomyelitis reported by Vulpian in 1886 and known in Franco-German literature as Vulpian-Bernhardt's form of ALS.

    At certain stages of the disease's clinical course, it is probably difficult to differentiate it from progressive muscular atrophy (PMA). Some authors have said that PMA with late onset scapulohumeral distribution (over 45 years of age) generally leads to ALS as a matter of course.4

    Be that as it may, the truth is that this atypical form of amyotrophic lateral sclerosis behaves differently from typical ALS. The comparative study with the rest of the ALS group supplied important clinical findings, such as little or no functional impairment of the bulbar muscles or legs. Hu et al also made four important statistical discoveries.

    (1) The prevalence of this form of ALS constituted 10% of the ALS group as a whole (n=395). (2) The age of onset of this form was similar to the rest of ALS. (3) There was a clear predominance among men (the male/female ratio was 9:1 in this form, compared with 1.5:1 in the total ALS group). (4) There was a longer median survival (a median survival of 57 months compared with 39 months in the ALS group).

    Some of these patients have a long ALS clinical course, in that they usually preserve ambulatory ability, albeit with gait disorders, for more than 5 years after the onset of symptoms

    On a personal level, we also note two findings characteristic of these patients. In the initial stages of the illness, there is no effect on the diaphragm and the respiratory muscle failure occurs much later than in the typical form of ALS. This can be seen in the follow up of the results obtained in the respiratory function tests (FVC, PImax, and PEmax).

    We do not know the reason for either the characteristic distribution of weakness or muscle atrophy. A meticulous study shows that there is an atrophy of the deltoideus (especially in the pars spinata) and a loss of strength in the external rotation of the shoulder (infraespinatus, supraespinatus, and teres minor). As a consequence, the upper limbs adopt a characteristic position, with the shoulders slumped, and the arms, forearms, and hands in pronation.

    The atrophy and weakness of the infraespinatus and the supraespinatus, that act as an active ligament in scapulohumeral articulation, would explain the presence of subluxation of the shoulder joints in these patients.

    Finally, we are in complete agreement that the coexistence of cervical spondylosis and ALS can cause difficulty in diagnosis. The problem lies in the fact that cervical spondylosis is a common condition. It is found in 83.5% of men and 80.7% of women over the age of 55. The faster progressive deterioration of the symptoms, the appearance of bulbar signs, and the absence of sensory symptoms and signs would favour the diagnosis of ALS.5

    References

    Sasaki replies:

    We thank Gamez et al for their interest in our article concerning the atypical form of amyotrophic lateral sclerosis (ALS).1-1

    Over many years, several researchers have recognised this peculiar distribution of muscle atrophy in clinical practice. The clinical manifestations consist of the muscular atrophy confined to the shoulder girdle and the arms (proximally dominant), absence of deep tendon reflex in the arms,almost normal deep tendon reflex in the legs, and subluxation of the shoulder joints. Some patients progress to bulbar involvement. As Gamez et al cite, many terms have been coined to describe this peculiar pattern of the muscular atrophy such as dangling arm, orang utan sign, dead arm sign, suspended form, flail arm syndrome, amyotrophic brachial diplegia syndrome, bibrachial palsy and man-in-the-barrel syndrome. Some researchers classified into a category of motor neuron disease (ALS or spinal progressive muscular atrophy). However, others could not exclude the possible cause of cervical diseases such as dissociated motor loss in the upper extremity.1-2 In fact, these patients had cervical abnomalities such as cervical spondylosis and ossification of posterior longitudinal ligament disclosed by cervical radiography, MRI, or myelography. By contrast with clinical awareness of this peculiar pattern of muscular atrophy, no pathological confirmation had been made until we first reported necropsy cases in our articles.1-1 1-3 Now, these patients with their peculiar pattern of muscular atrophy are considered to be ALS or a subtype of ALS. In my private opinion, “dangling arm syndrome” or “dead arm sign” seems to be the most suitable term depicting this type of motor neuron disease.

    I agree with Hu et al reporting four important statistical discoveries in this form of ALS: the prevalence percentage of 10% of the whole ALS group, the similar age onset to the rest of ALS, a predominance among men (the male/female ratio was 3:1 in our study), and a longer median survival. It is clinically important to give wider publicity to the existence of this atypical form of ALS to avoid unnecessary surgical intervention for cervical abnormalities.

    References

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