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A 59 year old man had a 20 year history of proximal muscle weakness and proximal and distal amyotrophy with areflexia and vocal cords paralysis. The EMG and muscular biopsy were compatible with a chronic spinal atrophy. The sister of this patient was said to be suffering from a similar syndrome. The only similar cases published are the cases inherited as an autosomal dominant trait reported by Young and Harper. They are differentiated by the distal predominance of the amyotrophy. These cases can be compared with the rare cases of hereditary laryngeal palsy which have also an autosomal dominant inheritance.

The term benign monomelic amyotrophy embraces several types of juvenile amyotrophy of a limb progressing in two stages: first, constitution, then stabilization. Cases reported are in fact heterogeneous and require separation into categories. The cases presented here include: 1) true benign amyotrophy (4 cases); 2) localized forms of chronic sporadic (7 cases) or familial (2 cases) spinal amyotrophy; 3) developmental anomalies and phacomatosis (5 cases); 4) affections of inflammatory origin (4 cases); 5) cases classified as of uncertain but possibly central (1 case) or myosclerotic (1 case) origin, or with the single anomaly of type II fibres (1 case). Obviously that for differential diagnosis to be accurate diagnostic steps differ according to the site of lesions of the predominance upper or lower limbs.

Amyotrophy of cerebral origin was analyzed in 12 hemiplegics by means of comparative histological, histoenzymological, histographic and biochemical analysis of biopsies carried out in symmetrical zones. In the 6 cases in which atrophy predominated on the paralyzed side, it occurred early, the deficiency affecting the upper limb in particular and the sensory disturbance being irregular. Attempted numeration of the motor units remaining, according to the "incremential" method of stimulation, suggests a numerical reduction on the hemipelgic side. Despite reservations and general criticisms of this method, its comparative value, although approximate, must be acknowledged. However, although amyotrophy presumes a transsynaptic change in trophic function to have taken place in the peripheral neurone, neuronal depopulation--if one accepts it--cannot be other than functional.

The authors described 10 cases of scapulo-peroneal amyotrophy of spinal origin of the Stark-Kaeser type. The main characteristics are a frequently dominant autosomal heredity, onset in the muscles of the legs, scapulp-peroneal weakness and amyotrophy with extension sometimes to the bulbar muscles, areflexia without sensory disturbances, an electromyogram of the neurogenic type with a normal conduction rate, neurogenic histological aspects with normal peripheral nerve. It does not usually result in severe disability. This syndrome is related to the scapulo-peroneal or facio-scapulo-peroneal myopathies and the scapulo-peroneal neuropathies. The problem of the boundaries between these disorders and their association does not alter the fact that the concept of spinal amyotrophy of the Stark-Kaeser type should be kept as a reference group.

A case of an adult polysaccharide myopathy is reported in a patient with progressive muscular atrophy and weakness of limb girdles. Histochemistry and electron microscopy showed in some muscle fibers, a storage material composed of amylopectin-like filaments. Biochemical results were normal and no enzyme deficiency was found. This case is compared with three other published cases. Pathological conditions with amylopectin or amylopectin-like storage material are reviewed.

Three new cases of X chromosome-linked spinal muscular atrophy associated with gynaecomastia are reported. They were concordant with the description given in about 15 published reports: predominantly proximal muscle weakness and atrophy, fasciculations in the face and tongue, areflexia and slowly progressive course. In two of our patients nerve biopsy showed axonal lesions. All these patients had gynaecomastia. The relationship between the neurological and endocrine syndromes is discussed, but no firm conclusion can yet be drawn.

Quadricipital myopathies are often mentioned but have been described in only about 10 papers. Based on a review of the literature and 10 personal cases, the term "quadricipital amyotrophic syndrome" is proposed for a group of affections which can currently be divided into: 1) primary muscular dystrophies: pure quadricipital myopathy, quadricipital myopathy "plus", lumbopelvifemoral myopathy though it is doubtful whether the latter should be included; 2) metabolic muscular disorders; 3) chronic polymyositis localized to the quadriceps; 4) spinal amyotrophy localized to the quadriceps.

Two new cases of Emery-Dreifuss dystrophy in two brothers are reported. Both shared common characteristics: X-linked inheritance, early contractures, scapulo-humeroperoneal muscle weakness and wasting, cardiac conduction abnormalities with permanent atrial paralysis. A review of the literature is presented. Genetically, the disease appears as a syndrome rather than an entity because of recently published cases with dominant autosomal inheritance. Finally, contractures and their relationship with myosclerosis, notably rigid spine syndrome, are discussed. Fibrosis could be the common feature of both cardiac and muscular abnormalities. It could explain the ambiguous results of electromyogram and muscle biopsy.

Three cases of neuropathic scapulo-peroneal syndrome are reported. One case was of the hypertrophic type, two were of the neuronal type. The nosological situation of the Dawidenkow syndrome is discussed. Cases of scapulo-peroneal amyotrophy with peripheral neuropathy should be regarded as a topographical variety of Charcot-Marie-Tooth disease.

Two cases of quadriceps amyotrophy, probably of chronic neurogenic origin are reported. Only the knee jerks were diminished, the calves hypertrophic, and the serum creatine kinase level very high in one case, and there were neurogenic electromyographic abnormalities in the quadriceps. In the first case, biopsy of the quadriceps muscle revealed a neurogenic origin with hyalinized hypertrophic fibres. CT scan showed abnormalities not only in the quadriceps but also in the sartorius, gracilis and gastrocnemius muscles. A second biopsy specimen from the gastrocnemius muscle showed histological findings similar to those of the quadriceps. In the second case, the EMG and biopsy findings suggested a myogenic origin, but 6 years later they were compatible with neurogenic atrophy. Differentiation from Becker dystrophy is very difficult in the first case and the second case is more a focal spinal amyotrophy. Further, in spite of their localization, the extension of the affected muscles changes the diagnosis. The same applies to chronic quadriceps amyotrophy in general, which cannot be regarded as an entity, but which suggests muscular dystrophy, spinal atrophy, polymyositis or a metabolic disorder. These cases can be compared with the four cases reported in the literature, which were regarded as a "forme fruste" of chronic spinal amyotrophy.