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PubMed1979

[Neurologic syndromes affecting the shoulder (author's transl)].

A number of locally defined as well as generalised diseases of the peripheral nervous system is manifested in the shoulderarm region besides lesions of individual nerves through traumas or as a result of pressure. Radicular syndromes are particularly frequent. These are based on prolapsed disks or degenerative changes of the cervical vertebral column. We must differentiate between these syndromes and the often rather unknown neuralgic amytrophy of the shoulder. Our experience has shown that in too many cases, paralysis of the plexus cervico-brachialis is assumed, although this occurs almost exclusively on the basis of traumatic violence, much rarer due to pressure. In such cases, the physician should look for the scalenus syndrome, the costoclavicular syndrome, and the hyperabduction syndrome. As a rule, pain is the most prominent symptom in plexus pareses through new growths, eg Pancoast's tumour. In such cases, a clear distinction must be made against bursitis of the shoulder (periarthritis humeroscapularis), in which there are no neurogenic changes, but only myogenic changes manifested in the electromyogram. If the sudden pain is accompanied by swelling and weakness of the arm, there is every likelihood of the existence of Paget-von Schrötter's syndrome. A remarkably painless deformation of the shoulder joint should also suggest neurogenic arthropathy in syringomyelia. The physician should also consider disturbances of distant origin, for example in the region of the carpal tunnel, with pain radiating to the shoulder in the manner of brachialgia paraesthetica. Finally, any noticeable weakness or muscular atrophy in the shoulder region should suggest a disease of the neuromuscular system, mainly progressive muscular dystrophy or the rare shoulder girdle type of amyotrophic lateral sclerosis.

Arthropathy, Neurogenic↗
PubMed1990

Surgical treatment of scoliosis in a spinal muscular atrophy population.

Seventy-eight patients were diagnosed with spinal muscular atrophy between 1969 and 1988. Scoliosis developed in 34 of these patients, an incidence of 60%. Thirty-one patients could be retrospectively reviewed by chart review or interview. The average follow-up was 11.5 years. Onset of scoliosis averaged 8.8 years. Twenty-two patients were treated nonsurgically and nine surgically. Patients had improved sitting balance and endurance after surgery. Complications of surgery included loss of correction in one patient, one pseudarthrosis, and one patient who required prolonged ventilatory support. The prolonged survival of patients with spinal muscular atrophy justifies aggressive orthopaedic management of scoliosis to prevent progression of deformity and improve sitting comfort.

Braces↗
PubMed1975

Familial type I fiber atrophy.

An 11-year-old boy and his 40-year-old mother with congenital, non-progressive muscular weakness and wasting are described. Muscle biopsies from both cases showed a selective atrophy of Type I fibers without any structural change except for very few nemaline bodies. Probably, the neuromuscular disorder in this family is identical to the congenital fiber type disproportion described by Dubowitz and Brooke, but familial Type I fiber atrophy (hypotrophy, or hypoplasia) is considered to be a more appropriate descriptive term for a family with such distinct histochemical characteristics.

Adult↗
PubMed1995

Multiple sclerosis presenting as late functional deterioration after poliomyelitis.

We describe five patients with previous poliomyelitis who developed multiple sclerosis (two laboratory supported definite and three clinically definite). The initial symptoms of functional deterioration developed a mean of 30 years following poliomyelitis. Initial functional deterioration was due to progressive limb weakness or impaired mobility and in three cases this led to an initial diagnosis of post-polio muscular atrophy. The clinical diagnosis became apparent with the subsequent development of characteristic clinical features, including optic nerve, brainstem, cerebellum, and spinal cord involvement. The occurrence of multiple sclerosis in these patients emphasises that late functional deterioration may be apparently unrelated to previous poliomyelitis. Furthermore, characteristic clinical features may be masked by the severe pre-existing neuromuscular and orthopaedic impairment leading to diagnostic delay and confusion with the ill-defined clinical syndrome of progressive post-polio muscular atrophy.

Adult↗
PubMed1977

Distal chronic spinal muscular atrophy involving the hands.

Six patients with a 10 to 30 year history of slowly progressive wasting and weakness of the small muscles of the hands have been studied. In all patients the abnormal neurological signs were largely confined to the hands and there was no clinical nor radiological evidence of peripheral nerve, nerve root or central nervous system disease. Detailed electrophysiological studies established that the muscle wasting was due to chronic partial denervation. Motor and sensory conduction studies were normal. These patients represent a benign form of chronic spinal muscular atrophy largely localised to the small muscles of the hand.

Adult↗
PubMed2003

Inhibiting axon degeneration and synapse loss attenuates apoptosis and disease progression in a mouse model of motoneuron disease.

Apoptosis is a hallmark of motoneuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) [1]. In a widely used mouse model of motoneuron disease (progressive motor neuronopathy or pmn) [2-4], transgenic expression of the anti-apoptotic bcl-2 gene [5] or treatment with glial cell-derived neurotrophic factor [6] prevents the apoptosis of the motoneuron soma; however, they were unable to affect the life span of the animals. The goal of the present work was to determine whether the pmn phenotype could be rescued by means of a gene that inhibits axon degeneration. For this reason, the pmn mice were crossed with mice bearing the dominant Wlds ("slow Wallerian degeneration") mutation, which slows axon degeneration and synapse loss [7-9]. We show here that the Wlds gene product attenuates symptoms, extends life span, prevents axon degeneration, rescues motoneuron number and size, and delays retrograde transport deficits in pmn/pmn mice. These results suggest new pathogenic mechanisms and therapeutic avenues for motoneuron diseases.

Animals↗
PubMed1993

[Acute progressive polyneuropathy in a patient with Waldenström macroglobulinemia].

A case of Waldenström's macroglobulinemia (WM) (IgM-kappa type) associated with acute-onset demyelinating peripheral neuropathy is reported. A 49-year-old woman was admitted to our hospital because of general fatigue and recurrent syncope attacks. She was treated with vincristine, cyclophosphamide, epirubicin and prednisolone. By 10th hospital day, her clinical condition improved and serum viscosity was reduced. However, on the 21st hospital day, she suffered from rapidly progressive writing and gait disturbance. Neurological examination showed muscular atrophy and weakness in the distal part of four extremities. Deep tendon reflexes were diminished. There was no sensory deficit. Cerebrospinal fluid was normal. Anti-myelin associated glycoprotein activity of her serum was negative. Both motor and sensory nerve conduction velocities were markedly decreased. Biopsy of sural nerve revealed marked demyelination and onion bulb formation. There was IgM deposition on myelin sheath. Minimal axonal changes excluded the possibility of vincristine neuropathy. Plasmapheresis improved her symptoms, but nerve conduction velocities remained unchanged. Polyneuropathy associated with WM is usually gradual onset and sensory dominant. In this case, associated neuropathy was acute onset, progressive and motor dominant. This type of neuropathy in patients with WM is very rare.

Acute Disease↗
PubMed1991

Becker muscular dystrophy or spinal muscular atrophy?--Dystrophin studies resolve conflicting results of electromyography and muscle biopsy.

We studied a 29-year-old man with slowly progressive proximal leg weakness, calf hypertrophy, and high serum levels of creatine kinase activity. Clinically, it was not possible to identify his as a sporadic instance of Becker muscular dystrophy (BMD) or one of spinal muscular atrophy. The problem arose because electromyography and elevated creatine kinase suggested a myopathy whereas changes in the muscle biopsy resembled a neurogenic disorder. The diagnosis of BMD was made by DNA analysis which detected a deletion at Xp21 and by immunoelectrophoresis and immunohistochemical tests that identified an abnormal form of gene product, dystrophin. These studies were important for genetic counselling, identifying an X-linked disease instead of one that is autosomal recessive.

Adult↗
PubMed1975

A case of Déjerine-Sottas disease with schizophrenic symptoms. A clinical and pathological study.

A case of hypertrophic interstitial neuritis with a disturbance of intelligence and schizophrenic symptoms was reported. The patient, a 41-year-old male, showed monologia at the age of 14 and auditory hallucination at the age of 21. He was diagnosed as schizophrenia. Torsion of the head to the right side and muscular atrophy were also noticed at 21 years. Atrophy of the muscles progressed gradually, particularly in the distal parts of the upper and lower extremeties. Psychiatric examination revealed schizophrenic symptoms such as auditory hallucination, thought disorder, lack of spontaneity, autism, apathy, etc. There was also a disturbance of intelligence (imbecility). In neurological examination, the torsion of the head to the right side, slight exaggeration of the peripheral reflexes, muscular atrophy in the distal parts of the extremeties were noted. The bilateral ulnar nerves were markedly hypertrophied. The biopsy of the right ulnar nerve revealed a remarkable thickening of the endoneuria and "onion bulb" formations. A large amount of the interstitial accumulation of PAS positive substance, which showed metachromasia in cresyl violet staining, was also noted. Schwann cell processes were proved electron-microscopically to surround the myelin sheaths and some of them meandered and extended and into the metachromatic substance. The basement membrane of the sheath cell was hypertrophic in some portions and elongated into interstitium. The nucleus of the sheath cell was hyperchromic and showed marked atrophy. Histological examination of the biopsy specimen obtained from the gastrocnemius muscle suggested neurogenic muscular atrophy. The relationship among the hypertrophic interstitial neuritis, schizophrenic symptoms, disturbance of intelligence and torsion of the head was also discussed.

Adult↗
PubMed2005

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

INTRODUCTION: FKRP mutations cause a muscular dystrophy which may present in the neonatal period (MDC1C) or later in life (LGMD2I). Intelligence and brain imaging have been previously reported as being normal in FKRP-associated muscular dystrophy, except in rare cases presenting with mental retardation associated with structural brain abnormalities. PATIENTS AND METHODS: We studied cerebral MRIs in twelve patients with FKRP-associated muscular dystrophy presenting in infancy or early childhood, at ages between 14 months and 43 years. Two patients had severe cognitive deficits, four had mild-moderate mental retardation and the rest were considered to have normal intelligence. All, but one were wheelchair-bound and 7 were mechanically ventilated. RESULTS: Brain MRI was abnormal in 9 of 12 patients. Brain atrophy was seen in 8 patients. One child had isolated ventricular enlargement at 4 years. Cortical atrophy involved predominantly temporal and frontal lobes and was most important at later ages. In two cases with serial images this atrophy seemed progressive. Three patients, two with severe and one with moderate mental retardation, showed structural abnormalities of the posterior fossa with hypoplasia of the vermis and pons, and cerebellar hemispheric cysts. These abnormalities were stable with time. Two of these three patients also showed diffuse white matter abnormalities in early childhood, which regressed with time. CONCLUSIONS: MRI abnormalities are common in patients with FKRP-associated muscular dystrophy presenting at birth or in early childhood. Progressive brain atrophy is the most frequent finding. Posterior fossa malformations and transient white matter changes may be seen in patients with associated mental retardation.

Adolescent↗
PubMed2004

Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophy.

OBJECTIVE: To study the role of diabetes, gynecomastia and CAG triplet repeat size as disease modifying factors of neurologic expression in spinal bulbar muscular atrophy (SBMA, Kennedy's disease). METHODS: Twenty unrelated SBMA patients with confirmatory genetic testing were reviewed. Patterns of neurologic involvement were assessed (e.g. bulbar, asymmetric, proximal, distal, motor and sensory). Slopes of disease progression were calculated from serial quantified neurologic examinations. Patterns of neurologic involvement and course were correlated to the presence of diabetes, gynecomastia and triplet repeat size. RESULTS: Diabetes or glucose impairment occurred in nine and 11 had gynecomastia. Patterns of neurologic involvement and rates of progression did not correlate with these endocrine diseases or triplet repeat sizes. Correlation was seen between number of CAG repeats and age of onset weakness (r = -0.53, r2 = 29%, p = 0.01). CONCLUSIONS: The specific neurotoxic effect of expanded CAGs appears limited to age of onset weakness in SBMA. Although significant, only 29% of the variability in onset age could be accounted for by polyglutamine size suggesting the importance of other unidentified factors. In this series diabetes or glucose impairment was more common than previously reported and, like gynecomastia, did not correlate with size of triplet repeats, severity or patterns of neurologic involvement. Modifying factors other than diabetes, gynecomastia or triplet repeat size are suggested in disease expression.

Adult↗
PubMed1999

Identification of two distinct transcripts for the neuronal apoptosis inhibitory protein gene.

The spinal muscular atrophies (SMA), characterized by motor neuron loss and progressive paralysis, are among the most common autosomal recessive disorders. Recently, two SMA candidate genes, NAIP (neuronal apoptosis inhibitory protein) and survival motor neuron (SMN), were reported and a 131-kb genomic sequence of 5q13.1 encompassing these two genes was determined. Based upon this genomic sequence, the original NAIP cDNA sequence published in 1995 was shown to contain foreign fragments. We therefore conducted an extensive cDNA cloning of NAIP from a human fetal brain library. Our studies confirmed that the cDNA sequence deduced from the 131-kb genomic sequence was the major transcript in the human fetal brain. In addition, a shorter and minor transcript was also newly identified. We thus designated the longer and shorter transcripts as NAIPl and NAIPs, respectively. The cDNA clones for NAIPl and NAIPs should facilitate the functional analysis of the NAIP gene and its association with neuronal apoptosis and SMA.

Base Sequence↗
PubMed2001

[A case of Hirayama's disease successfully treated by anterior cervical decompression and fusion].

The authors report the case of a 16-year-old boy with Hirayama's disease(juvenile muscular atrophy of unilateral upper extremity). The present history began about 6 months previously, when he noticed slowly progressive weakness with atrophy of the left hand and forearm. Neurological examination on admission revealed diffuse distribution of muscular atrophy including the left hypothenar, thenar, forearm, and triceps muscles. However, EMG studies identified neurogenic changes in both upper extremities. There was no long tract sign of objective sensory impairment. Plain spinal radiograms showed abnormal kyphosis of the cervical vertebrae. Cervical MR images in the neutral position demonstrated focal atrophy of the cervical cord at the C 5-6 vertebral levels. When the neck was flexed, the cervical cord was displaced anteriorly and was compressed over the posterior surface of the C 5-6 vertebral bodies. He was diagnosed to have Hirayama's disease(cervical flexion myelopathy). Via an anterior approach, he underwent a C 5 vertebrectomy followed by fixation of C 4-6 vertebral bodies using iliac bone and plate system. He recovered from surgery without any complications and has been well for the past 6 months with remarkable improvement of muscle strength. Application of cervical collar for 3 to 4 years has been generally advocated for the treatment of Hirayama's disease because progression of signs and symptoms is usually expected to cease within several years. However, some patients were reported not to response to conservative treatment for more than 5 years after their onsets. To these patients surgery seems to be beneficial, because it can give rise to permanent stable fixation with much shorter period of external cervical immobilization compared with cervical collar therapy, in which long-term application is frequently unbearable in many patients. In conclusion, the present case emphasizes the importance of surgical treatment in Hirayama's disease not only to improve neurological deficits but regain better quality of life.

Adolescent↗