1/29. Diaphragmatic spinal muscular atrophy with bulbar weakness.We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child was born with mild distal arthrogryposis, mild hypotonia and developed marked diaphragmatic and bulbar muscle weakness in the first week of life. Electrophysiological and pathological investigations performed at presentation were not conclusive, while the investigations performed at 3 months showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy.- - - - - - - - - - ranking = 1keywords = muscular atrophy, atrophy, muscle (Clic here for more details about this article) |
2/29. Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family.We report a Japanese family with autosomal dominant adult-onset amyotrophic lateral sclerosis (FALS) with onset in the bulbar musculature, clinically benign course, absence of the Cu/Zn superoxide dismutase-1 (SOD 1) gene mutation, and many Bunina bodies, in addition to involvement of the upper and lower motor neurons. The proband was a Japanese woman who was 66 years old at the time of death. family history disclosed five patients with FALS over three generations. She developed dysarthria at age 57, followed by dysphagia, muscle weakness of the upper extremities, and difficulty in respiration. She could walk without support until her death. The elder sister of the proband developed dysarthria at age 48 and died at age 58. A genetic study of the nephew of the proband showed the absence of a mutation in the SOD 1 gene. Neuropathological examination of the proband disclosed neuronal loss in the upper and lower motor neurons, and numerous Bunina bodies in the lower motor neurons without Lewy body-like inclusions or ubiquitin-immunoreactive neuronal inclusions. No degeneration of the Clarke's column, middle root zone of the posterior column, or posterior spinocerebellar tract was present. review of the literature revealed that only patients with FALS with a long survival period of over 5 years had pathological findings consistent with FALS with posterior column involvement. This study contributes to the elucidation of the clinicopathological heterogeneity of FALS.- - - - - - - - - - ranking = 4.279595515956E-5keywords = muscle (Clic here for more details about this article) |
3/29. Progressive bulbar palsy: a case report diagnosed by lingual symptoms.The aim of this report is to show a case of Progressive Bulbar Palsy (PBP), diagnosed by oral medicine specialists, from oral symptoms of the disease. We have found no more than two published cases of PBP diagnosed by lingual alterations. We have followed the patient for almost four years, which is remarkable considering that the normal survival period for these patients is up to three years. We would like to emphasize the role of general dentists in the diagnosis of systemic conditions based on an oral examination that should include the oro-facial muscles.- - - - - - - - - - ranking = 4.279595515956E-5keywords = muscle (Clic here for more details about this article) |
4/29. Infantile progressive bulbar palsy with deafness.A 12-month-old boy with progressive cranial nerve palsies followed by ventilatory failure demanding artificial ventilation, generalized muscle weakness, and rapid progression to death at the age of 21 months is described. The patient had normal early development and also apparently normal hearing at presentation of illness but, after 6 months of the onset of the disease, hearing loss was documented by brainstem auditory evoked potentials (BAEP). Although the initial clinical and laboratory findings of this infant could fit with the diagnosis of progressive childhood bulbar palsy or Fazio-Londe (FL) disease, the subsequent appearance of hearing loss suggests that this patient represents a case of progressive bulbar palsy with perceptive deafness or Brown-Vialetto-Van Laere (BVVL) syndrome. To our knowledge, this case of BVVL syndrome with severe clinical features and rapid deterioration leading to death is the youngest one reported in the literature. Furthermore, this case emphasizes the need for repeated auditory examinations, including the performance of BAEP in all cases, especially infants and young children with progressive bulbar palsy.- - - - - - - - - - ranking = 4.279595515956E-5keywords = muscle (Clic here for more details about this article) |
5/29. X-linked spinal and bulbar muscular atrophy without proximal atrophy.We report on a case of genetically proven X-linked spinal and bulbar muscular atrophy (X-SBMA) with prominent distal muscle atrophy and without proximal muscle involvement. The patient was a 35-year-old man who had a history of slow progressive hand and distal leg muscle weakness and wasting for 10 years. Motor nerve conduction velocities were normal with reduced compound muscle action potential amplitudes of hand and foot muscles. Sensory action potential amplitudes were small. Needle EMG revealed a chronic partial denervation with reduced interference in hand and distal leg muscles but with normal heading in all tested proximal muscles. Genetic studied showed an expansion of CAG repeat in the first exon of the androgen receptor gene, which suggests diagnosis of X-SBMA. The importance of genetic studies in this patient with unusual clinical presentation is emphasized.- - - - - - - - - - ranking = 0.8422584934782keywords = muscular atrophy, atrophy, muscle (Clic here for more details about this article) |
6/29. Madras motor neuron disease variant, clinical features of seven patients.Madras motor neuron disease (MMND) has the characteristic features of onset in the young, atrophy and weakness of the limbs, multiple cranial nerve palsies particularly the seventh, ninth to twelfth and sensorineural hearing loss with unique geographic distribution to southern part of india. During a period of 28 years (1974-2001), 7 (13%) among 54 patients of MMND seen at a tertiary referral center at Bangalore, india, had the additional features of optic atrophy in all and cerebellar involvement in three of them. There were three males and four females, the mean age at onset was 11.7 years, with a mean duration of illness of 6.4 years. All except one patient were ambulant and independent in the activities of daily living. family history of MMND was present in more than a quarter (28.6%) of patients. Compared to MMND, these patients had onset of illness at a younger age and family history was more frequently observed, however, these differences were not statistically significant. Bulbar palsy was an invariable feature, being present in all patients compared to 38.3% of MMND and the difference was statistically significant (p=0.003). This clinical profile may be considered to be a variant of Madras motor neuron disease (MMNDV).- - - - - - - - - - ranking = 0.003464500701887keywords = atrophy (Clic here for more details about this article) |
7/29. Progressive bulbur paralysis (Fazio-Londe disease).Progressive bulbar paralysis of childhood is characterised by progressive paralysis of muscles innervated by cranial nerves. The authors report a case of progressive bulbar paralysis of childhood in a 12-year-old child. child was admitted with the complaints of drooping of eyelids, difficulty in swallowing and hoarse voice. She had involvement of III, VII, IX, X, XI and XII cranial nerves and the corticospinal tracts. electromyography revealed spontaneous activity in the form of fasciculations, giant motor unit potential and discrete recruitment of motor neurons suggestive of denervation pattern. Hearing assessment was normal. Muscle biopsy was also suggestive of neurogenic atrophy.- - - - - - - - - - ranking = 0.001775046306103keywords = atrophy, muscle (Clic here for more details about this article) |
8/29. association of spinal and bulbar muscular atrophy with myotonic dystrophy type 1.A man with spinal and bulbar muscular atrophy (SBMA) had a short (CTG)n expansion in the myotonic dystrophy protein kinase gene as well as (CAG)n expansion in the androgen receptor gene in leukocytes. The patient had the characteristic clinical findings of SBMA, but none of myotonic dystrophy type 1 (DM1). All of his three children (a son and two daughters) had the DM1 phenotype with long (CTG)n expansions. The daughters also had heterozygous long (CAG)n expansions. Postmortem examination of the patient revealed the characteristic pathological changes of SBMA as well as muscle degeneration compatible with DM1. Gene analysis of the organs disclosed unstable long expansions of the (CTG)n repeats, in contrast to the stable (CAG)n expansions. We have assumed that SBMA and DM1 developed independently in our patient, but cannot exclude the possibility that interactive gene effects increased somatic instability.- - - - - - - - - - ranking = 0.83334046599253keywords = muscular atrophy, atrophy, muscle (Clic here for more details about this article) |
9/29. rehabilitation for postpolio sequelae.BACKGROUND: Postpolio sequelae (PPS) are new, late manifestations that occur many years after the initial poliomyelitis infection. recurrence of symptoms and fear of reactivation of the polio virus is particularly distressing to polio survivors. OBJECTIVE: This article outlines the diagnosis, pathophysiology, and management of PPS disabilities using a case vignette. DISCUSSION: Clinical features of PPS include fatigue, joint and muscle pain, new muscular weakness and bulbar symptoms. diagnosis can be complicated particularly in nonparalytic cases of poliomyelitis. Disabilities in PPS may not be obvious to the observer but significantly affect the quality of life of the PPS patient. Previous rehabilitation intervention focussed on physical effort and determination to overcome disability at all costs. The treatment in PPS is now modified, and aggressive physical measures that may exacerbate muscle weakness are avoided. Most disabilities in PPS can be well managed with rehabilitation interventions that address limitations in patient activities of daily living, mobility and cardiopulmonary fitness.- - - - - - - - - - ranking = 8.5591910319119E-5keywords = muscle (Clic here for more details about this article) |
10/29. Brown-Vialetto-van Laere syndrome; the first Turkish case.We describe a 14-year-old female patient with progressive ponto-bulbar palsy and deafness. The first symptom was present at the age of 9 as a difficulty in walking and then she was stable with mild clumsy walking till 14 year-old. It was noticed that she had rapidly progression gait disorder, hearing loss, difficulty in swallowing and speaking in a period of 2.5 months. Clinically, there were bilateral facial weaknesss, atrophic tongue with fasciculations, poor gag reflex, deafness, axial and appendicular hypotonia, severe muscular weakness involving muscles of neck, shoulder, and upper arms, hands with thenar and hypothenar amyotrophy. hearing loss was documented by brainstem auditory evoked potentials. Other laboratory investigations, screening tests and imaging studing were normal. These clinical features are consistent with the Brown-Vialetto-van Laere syndrome.- - - - - - - - - - ranking = 4.279595515956E-5keywords = muscle (Clic here for more details about this article) |
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