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PubMed1977

An obscure inherited neuropathy characterized by pain and weakness.

Two brothers with inherited muscular atrophy and particular proneness to painful limbs are described. Symptoms of disease began at an early age with severe pains in the extremities. The pain is particularly aggravated by heat or fever and over the years has been associated with progressive muscular atrophy and sensory loss. A prominent feature of biopsy specimens was the tomaculous swellings which affected the myelin of the nerve axon and the motor nerve terminals.

Adolescent↗
PubMed2002

Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy.

Spinal and bulbar muscular atrophy (SBMA) is a polyglutamine disease caused by the expansion of a CAG repeat in the androgen receptor (AR) gene. We generated a transgenic mouse model carrying a full-length AR containing 97 CAGs. Three of the five lines showed progressive muscular atrophy and weakness as well as diffuse nuclear staining and nuclear inclusions consisting of the mutant AR. These phenotypes were markedly pronounced in male transgenic mice, and dramatically rescued by castration. Female transgenic mice showed only a few manifestations that markedly deteriorated with testosterone administration. Nuclear translocation of the mutant AR by testosterone contributed to the phenotypic difference with gender and the effects of hormonal interventions. These results suggest the therapeutic potential of hormonal intervention for SBMA.

Animals↗
PubMed1989

Neuromuscular symptoms in patients with previous poliomyelitis: a New Zealand study.

Eighteen patients with old poliomyelitis were assessed in order to determine the incidence and severity of late complications. Sixty-one percent complained of new weakness, 83% fatigue and 17% muscle pain. After assessment 33% (six patients) were judged to have significant new weakness and muscle fatigue that could not be explained by other causes, and this group may have postpoliomyelitis progressive muscular atrophy or postpolio syndrome. Onset of symptoms was typically about 30 years after the acute illness; new weakness was relatively mild and progression was slow over many years. Clinically and pathologically this disorder is distinct from idiopathic motor neuron disease, and is not life threatening.

Adult↗
PubMed1987

Motor neuron disease and paraproteinemia.

We studied two patients with motor neuron disease and paraproteinemia. One had amyotrophic lateral sclerosis (ALS) and IgG lambda monoclonal gammopathy. The second had slowly progressive muscular atrophy and an IgM kappa paraprotein, followed by a biclonal gammopathy when an IgA kappa paraprotein appeared. Treatment with immunosuppressive agents and plasmapheresis lowered the serum concentration of the paraproteins. The ALS syndrome progressed despite therapy. The other patient improved, was stable for several years, but then deteriorated despite continued therapy.

Aged↗
PubMed1999

Diagnostic challenges in ALS.

Although the essential requirements for diagnosis of amyotrophic lateral sclerosis (ALS) are clearly defined by the El Escorial criteria, many physicians, including neurologists, still miss the diagnosis. Physician misdiagnosis of ALS relates to lack of knowledge about ALS and skill and to diagnostic difficulty. The differential diagnosis must exclude nonmotor neuron diseases and other adult-onset motor neuron diseases with restricted presentations, e.g., progressive bulbar palsy (pure bulbar), progressive muscular atrophy (pure lower motor neuron) and primary lateral sclerosis (pure upper motor neuron), ALS-like syndromes and ALS variants, and adult-onset spinal muscular atrophies. Although the diagnosis of ALS remains a clinical one, laboratory testing can be used to exclude other diseases and to confirm the diagnosis. Such tests include EMG and nerve conduction studies, MRI and CT of the spine and brain, identification of biochemical markers in blood and CSF, and muscle or nerve biopsy. Genetic testing can identify gene defects in some types of familial ALS and in certain other inherited motor neuron diseases that mimic ALS. At present there is no widely accepted protocol for laboratory testing in cases of suspected ALS, but it is hoped that laboratory tests will improve in the future to facilitate earlier confirmation of a diagnosis of ALS. However, correct and early diagnosis of ALS can only be achieved when the first, second, or third physician who sees the patient knows about ALS and includes it in a differential diagnosis.

Adult↗
PubMed2002

Atopy and neural damage.

The occurrence of myelitis with atopic diathesis (atopic myelitis) affecting young adults has recently been noted in Japan. The disease preferentially affects the posterior column of the cervical spinal cord, as shown clinically and by MRI. It is characterized by hyperIgEaemia and the presence of mite antigen-specific IgE. The spinal cord lesions have been shown to be eosinophilic inflammation on biopsy and thus an allergic mechanism is thought to be operative in this condition. In addition, we also found that Hirayama disease, juvenile muscular atrophy of the distal upper extremity, is also associated with airway allergy such as allergic rhinitis and atopic asthma. In children, poliomyelitislike illness after acute asthma attacks is well known as Hopkins syndrome. Moreover, by the prospective study of the history of allergic disorders in common neurologic diseases, an association between spinal progressive muscular atrophy (SPMA) and asthma as well as between myelitis and atopic dermatitis has been demonstrated. These observations strongly suggest a link between atopic diathesis and spinal cord damage. Central nervous system damage associated with atopic diathesis may be classified into two types; eosinophilic myelitis preferentially affecting the cervical spinal cord and lower motor neuron damage, such as Hopkins syndrome, Hirayama disease and SPMA. The former is typically associated with atopic dermatitis while the latter, with airway allergy.

Humans↗
PubMed1990

Far-field and cortical somatosensory evoked potentials in motor neuron disease.

We examined median somatosensory evoked potentials (SEPs) in 26 patients with sporadic motor neuron disease (MND). SEPs were recorded with multiple scalp derivations, using both the midfront and the earlobe as references for each subject. Central conduction time (CCT) was abnormal in three patients, but only when using the midfront reference. Moreover, an exclusive alteration of the early prerolandic potentials (absent or delayed P20 and/or P22) was noted using the earlobe reference in amyotrophic lateral sclerosis and in progressive bulbar palsy (54% and 50% of patients, respectively) but not in progressive muscular atrophy. These findings correlated with clinical evidence of upper motor neuron signs and with the severity of the disease. In agreement with recent views regarding the sources of the early anterior cortical responses, neuronal loss in the motor cortex may be considered as affecting the generator sites of these potentials.

Adult↗
PubMed1987

Presenile dementia combined with amyotrophy: a review of 34 Japanese cases.

Thirty-four Japanese cases exhibiting presenile dementia combined with amyotrophy were reviewed with four case reports. The clinical feature of dementia was generally unspecific and could not be clearly diagnosed as Pick's disease or Alzheimer's disease. But most of these patients did not exhibit manifest visual agnosia or apraxia suggesting 'posterior dementia'. Brain CTs showed mild diffuse atrophy with non-circumscribed fronto-temporal accentuation. PSD (periodic synchronous discharge on EEG) as seen in Creutzfeldt-Jakob disease (CJD) was not noted in any of these cases. Although individual neurological findings were not contradictory to amyotrophy lateral sclerosis (ALS), the clinicopathologic findings, on the whole, could be regarded as indicative of an atypical spinal progressive muscular atrophy. The brain pathology lacked specific changes. A mild to moderate degree of glial proliferation, subcortical gliosis and a moderate spongy state of the upper cortical layers were seen mainly in the fronto-temporal area. Nigral degeneration was observed in half of the cases. No Pick's cells, Pick's balls, Alzheimer's neurofibrillary changes or senile plaques were observed except in two cases, in whom it could be regarded as physiological. Brain weight was lighter than that of normal Japanese but heavier than that of Pick's disease, Alzheimer's disease or CJD. The brain pathology was similar to that of progressive subcortical gliosis. We have concluded that the disease under discussion might be a new disease entity.

Amyotrophic Lateral Sclerosis↗
PubMed1993

[Tissue variability of androgen receptor gene in bulbospinal muscular atrophy--comparison of the number of CAG repeats between muscles and peripheral blood leukocytes].

We investigated an expansion of CAG repeats in exon 1 of androgen receptor gene in skeletal muscle tissue obtained from the patients with various neuro-muscular disorders (5 BSMA, 33 patients with amyotrophic lateral sclerosis, 3 patients with spinal progressive muscular atrophy and 2 patients with hereditary motor sensory neuropathy), by polymerase chain reaction (PCR) amplification according to LaSpadas' description. These muscle tissues had been stored at -70 degrees C freezer during 7 years. We also studied the tissue variation of CAG repeats size between muscles and peripheral blood leukocytes in 4 patients with BSMA. And we confirmed the increased number of CAG repeats in all 5 BSMA except for other patients with neurogenic muscular atrophy. In the 4 BSMA patients, we subcloned the PCR products from muscles tissues and peripheral blood leukocytes, and we determined the number of CAG repeats by sequencing. The repeats of them were 43-51, and all BSMA patients showed the same number of CAG repeats in muscles tissues and peripheral blood leukocytes. The CAG repeats fragment of BSMA may be stable region in frozen storage state for 7 years, and we didn't recognized the somatic variation at least between muscles tissues and peripheral blood leukocytes.

Adenosine↗
PubMed1984

Rehabilitative operation for motor neuron disease: tendon transfer for segmental muscular atrophy of the upper extremities.

Segmental spinal muscular atrophy of adolescence is a clinical syndrome that can be distinguished from the more common forms of motor neuron disease. A patient with this syndrome who was no longer able to care for herself is described. After selective tendon transfers in her right upper extremity, she has been able to perform many of the activities of daily living. This improved function has been maintained for more than 2 years. We suggest that transfer of tendons and muscles may be indicated in selected patients with slowly progressive muscular atrophy.

Activities of Daily Living↗
PubMed1981

Case-control studies of motor neuron disease: association with mechanical injuries.

Two case-control studies of motor neuron disease that involved 712 cases and 158 cases, respectively, showed that (1) mechanical injuries were two to three times more frequent in both sexes, heralding amyotrophic lateral sclerosis, progressive bulbar paralysis, and progressive muscular atrophy; (2) the head, neck, spine, and the extremities were more often traumatized; (3) traumatized parts were not correlated with the initial manifestation of the disease; and (4) more males were traumatized, but males still predominated among uninjured cases. These results suggested that mechanical injuries were not the cause, but probably one of the risk factors of the disease. No association was observed with smoking, drinking, residence, home space, drinking water, animals, experience as a war prisoner, stay on Guam, parental consanguinity, measles, polio, mumps, tuberculosis, rheumatism, prothesis of the total teeth, shell splinters retained in the body, occupational exposures to radiations, chemicals, or gases, atomic bombings, electric injuries, surgical operations, and occupations.

Amyotrophic Lateral Sclerosis↗
PubMed1998

Motor neurone disease in South Estonia. Diagnosis and incidence rate.

The current study evaluated the diagnostic standards of MND and epidemiological markers of MND in Estonia. A total of 108 patients were referred to the University Hospital from 1986 to 1995 with the first suggested diagnosis or final diagnosis of amyotrophic syndrome, amyotrophic lateral sclerosis (ALS), progressive bulbar paralysis (PBP) or progressive muscular atrophy (PMA). In addition neurologists of the region and the National Society of Neuromuscular disorders were contacted. Some 94 patients satisfied the diagnostic criteria. The annual incidence rate in South Estonia and in the city of Tartu ranged from 0.5 to 2.8 per 100,000. The mean annual incidence rate in Tartu is 1.98 and in South Estonia in general 1.3. The highest incidence rate was 8.3 for men in the age group 60 to 64 years and 7.49 in the age group 70-74; among female patients the highest incidence rate -4.6 was in the age group from 65 to 69.

Adult↗
PubMed1997

Motor neurone disease in the tropics: findings from Sudan.

In this clinical study the presentation, electromyography and nerve conduction studies were described in different types of motor neurone disease in 28 Sudanese patients seen at El Shaab and Khartoum Teaching Hospitals. The three major clinical subtypes encountered were amyotrophic lateral sclerosis (n = 19), progressive bulbar palsy (n = 7) and progressive muscular atrophy (n = 2). Family history of the disease was found in four patients and those mainly presented with bulbar symptoms. Sudanese patients were found to have an earlier age of onset and a better prognosis of the disease than their caucasian counterparts.

Adolescent↗
PubMed1999

[Neuropathology of amyotrophic lateral sclerosis--from basic findings to topics].

Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disease that selectively affects upper and low motor neurons (UMNs and LMNs). The remaining LMNs show, in addition to normal appearance, a variety of cell pathology such as central chromatolysis, atrophy of the cell body and processes, Bunina bodies, and ubiquitinated hyaline and skein-like inclusions. Ultrastructural studies of the last two profiles indicate their processing by lysosomes. Whether apoptosis is responsible for motoneuronal death in ALS or not remains to be determined. In Klüver-Barrera (KB) staining, the pyramidal tracts in ALS usually appear normal at the pons in spite of their obvious pallor at the lower levels, leading to the dying-back hypothesis. However, axonal staining in such cases reveals obvious loss of large axons in the pontine pyramidal tracts, a finding inconsistent with the hypothesis. Similarly, in cases of motoneuron disease with the pyramidal tracts well stained by KB method, therefore, 'spinal progressive muscular atrophy (SPMA)', axonal staining demonstrated patent loss of large axons there. Thus, reappraisal seems to be required for previously reported SPMA cases, whose pathological diagnosis used to be made by KB staining alone.

Amyotrophic Lateral Sclerosis↗
PubMed2005

Psychosocial issues that face patients with Charcot-Marie-Tooth disease: the role of genetic counseling.

Charcot-Marie-Tooth (CMT) disease is a hereditary debilitating progressive muscular atrophy and sensory neuropathy of the distal extremities. CMT is usually non-life threatening. Signs of the disease usually present in childhood or in young adulthood and the level of disability can be variable within and between families. Research addressing specific psychosocial and emotional issues faced by individuals with CMT is limited. Fourteen adults with a clinical and/or molecular diagnosis of CMT (ages 32--74 years) consented to an audio taped interview. The format of the interview was based around an informal questionnaire to prompt and guide the interviewee to describe their experiences of living with a disabling genetic disorder. The interviews focused on their experiences of first symptoms and diagnosis, their life experience with CMT, their limitations due to disability and the role of genetic counseling. This study identifies and explores life issues that individuals with CMT may face, specifically grief over the loss of independence, emotional pain and stress such as embarrassment and guilt of passing on a gene mutation, impact on quality of life, the impact of wearing orthopedic devices, and fear of progressive disability. Our findings suggest that that there are emotional and psychosocial issues specific to affected individuals at different life stages and genetic counselors need to be aware of these issues in order to provide age appropriate support and advice to individuals affected by CMT.

Adaptation, Psychological↗
PubMedDate not supplied

[Progressive amyotrophy of a limb as the presenting symptom of anchored spinal cord syndrome with spinal lipoma].

OBJECTIVE: We present a case of progressive amyotrophy of a limb as the presenting symptom of the anchored spinal cord syndrome and review the principal clinical features of the syndrome, diagnostic tests which are useful in differentiating it from other conditions and its treatment. CLINICAL CASE: We describe a case of a young woman in whom the spinal cord was anchored by a spinal lipoma. At the onset of the disorder she complained of progressive muscular atrophy of the right leg and difficulty in dorsi-flexion of her right foot. Plain X-ray of the pelvis showed partial agenesis of the right lower hemisacrum and partial sacralization of L5. Lumbosacral CT and MR showed a lipoma to be present within the spinal canal and the thickened filum terminale anchored within the lipoma. During the next five months after diagnosis, the clinical picture worsened with paresia of flexo-extension of the right knee and of flexion of the right foot. Surgical treatment was therefore indicated. CONCLUSIONS: The anchored spinal cord syndrome should be considered in the differential diagnosis of spinal cord disorders presenting in adults, when there are other malformations such as agenesis of the sacrum. Surgical treatment is always indicated when there is evidence of worsening clinical condition.

Adolescent↗
PubMed1988

Motor neuron disease in Cantabria.

Sixty-two patients with motor neuron disease (MND), encompassing amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP) and progressive muscular atrophy (PMA), were selected from within a defined area (Cantabria) in northern Spain, from 1974 to 1985. The annual incidence of MND was 1.01 per 100,000 inhabitants and the prevalence rate was 3.52 per 100,000. The male to female ratio was 1.78:1. Age-specific incidence rates increased with advanced age, with a maximum between 60 and 69 years for males and over 70 years for females. The median age at onset was 60.5 years. The average interval between the onset symptoms and diagnosis was 11 months. Fifty-three per cent of the patients had conventional or pseudopolyneuritic ALS, 36% had PBP and 11% had PMA. There were three familial cases. Two PMA patients had had acute poliomyelitis. The mean duration of the disease was 26.6 months and was significantly longer in males aged under 60 years. The survival rates in 50 patients with adequate follow-up were 18% after 5 years from onset and 6% after 10 years.

Adult↗