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PubMed2000

Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS).

Twelve cases of adult-onset progressive muscular atrophy variant of amyotrophic lateral sclerosis (PMA/ALS) were studied in a small rural population of 1500 in the Republic of Belarus (former Soviet Union). The patients were members of three apparently related kindreds, each showing autosomal dominant pattern of disease inheritance. The average age at clinical onset ranged from 26 to 57 years (mean, 40 years). Each patient suffered from skeletal muscle weakness and wasting, starting in the limbs and spreading to the trunk and neck, with very limited bulbar and no upper motor neuron involvement. Death from respiratory failure occurred from 13 to 48 months (mean, 28 months) after first symptoms. Dramatically decreased number of spinal motor neurons was the most characteristic neuropathologic feature in two autopsied cases. Most of the remaining degenerating neurons contained intracytoplasmic hyaline inclusion bodies. A D101N mutation in exon 4 of the SOD1 gene was identified in a PMA/ALS patient and in one of her three unaffected children. Our data support the view that some subtypes of familial ALS associated with SOD1 mutations may present as PMA. Diagnostic criteria of ALS should be accordingly modified to include the PMA variant of familial ALS.

Adult↗
PubMed1990

[Postpolio late progressive muscular atrophy--clinical and epidemiologic analyses in 4 Japanese cases].

Four Japanese cases of postpolio progressive muscular atrophy (PPMA) of late onset were clinically studied to characterize their clinical features and discussed upon the epidemiologic viewpoint. Four male patients were included with mean age of 43.5 (30-59) years on examination, diagnosed as PPMA after the criteria by Alter (1982) and Dalakas (1986). All suffered from polio at age 10 month to 8 years (mean: 3y) between 1931 and 1957 with residual motor paresis in one limb or two. Twenty-eight to 55 (mean: 40.3) years later, subsequent muscle weakness and atrophy appeared in the limb seemingly unaffected by the initial polio attack. Marked fasciculations and occasional myalgias were noticed without sensory disturbance and bulbar as well as upper motor neuron signs. Laboratory examinations revealed moderate elevations of serum CK and protein content in SCF. No significant elevation of polio virus antibody titers was found in both serum and CSF. Electromyography showed neurogenic changes of various degrees by muscle tested. Muscle CT disclosed patchy distribution of atrophied muscles with fatty replacement in all extremities. Spinal cord MRI images were unremarkable. Scatters of small grouped atrophy and fiber type grouping were noticed on muscle biopsy specimens. These findings summarized in our cases are generally compatible with those of hereby reported PPMA cases. On reviewing the western literature and the great epidemic of polio around 1960 in Japan, an increasing number of patients with PPMA can be anticipated in near future; possibly in 10 years.

Adult↗
PubMed1979

[Juvenile, non-progressive muscular atrophy localized in the hand and forearm. Report of 16 cases (author's transl)].

Sixteen cases of juvenile, non-progressive muscular atrophy localized in the hand and forearm were seen at our neurology out-patient clinic for the past 8 years. The analyses of these 16 cases disclosed characteristic features as follows: 1) juvenile onset 2) male preponderance 3) unique distribution of muscular atrophy and weakness in the hand and forearm. 4) insidious onset, initial progressive period and subsequent non-progressive course 5) tendon reflexes of the arms are hypoactive in half of the cases 6) no pathological reflexes 7) cold paresis 8) no definite sensory disturbance 9) no cranial nerve involvement 10) neurogenic patterns on EMG According to these features, this clinical entity carrying good prognosis must be differentiated from several diseases associated with similar muscular atrophy of extremities, especially amyotrophic lateral sclerosis which is notorious as a fetal disease.

Adolescent↗
PubMed1999

Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy: a clinicopathological study.

We report an autopsy case of amyotrophic lateral sclerosis (ALS) clinically diagnosed as spinal progressive muscular atrophy (SPMA). The patient was a Japanese woman without hereditary burden. She developed muscle weakness of the distal part of the left lower extremity at age 42, followed by muscle weakness and atrophy of the right lower extremity and upper extremities. At age 57, she needed transient ventilatory support. Slight weakness in the facial muscles and fasciculation of the tongue appeared at age 60. At age 61, she died of sudden respiratory arrest. During the clinical course, neurological examination revealed neither Babinski signs nor hyperreflexia. The neuropathological examination revealed not only neuronal loss with gliosis in the facial nucleus, hypoglossal nucleus, and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tracts. Based on these clinicopathological findings and review of literature, we conclude that sporadic ALS mimicking SPMA is present.

Amyotrophic Lateral Sclerosis↗
PubMed2003

Mitral valve surgery in a patient with spinal progressive muscular atrophy: report of a case.

We describe our experience in treating a 69-year-old man with spinal progressive muscular atrophy (SPMA), who underwent a mitral valve replacement. He was admitted for dyspnea, and surgery was indicated for severe mitral insufficiency associated with inferior myocardial infarction. He had been aware of muscle weakness and received a diagnosis of SPMA 18 years previously. Worsening muscle atrophy had led to the need for him to use a wheelchair in his daily life. A preoperative examination revealed markedly reduced pulmonary function (% volume capacity = 44.8%). Because of an acute exacerbation of heart failure, the patient underwent an urgent mitral valve replacement with a 27-mm pericardial bioprosthesis. Although it took 42h to wean him from the mechanical ventilation and he suffered from pulmonary atelectasis after extubation, he was discharged from our hospital in a wheelchair 16 days after surgery. Respiratory management with bilevel positive airway pressure was thus found to be quite useful for patients with neuromuscular disease.

Aged↗
PubMed2004

Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy exists: additional autopsy case with a clinical course of 19 years.

This report concerns an autopsy case of sporadic amyotrophic lateral sclerosis (ALS) clinically diagnosed as having spinal progressive muscular atrophy (SPMA). The patient was a Japanese woman without hereditary burden. She developed muscle weakness in the distal part of the right upper extremity at age 52, followed by muscle weakness in the left upper extremity and lower extremities at age 54 and 64, respectively. At age 66 she could not walk, even with assistance. Fasciculation and atrophy of the tongue appeared at age 68, followed by dysphagia and dysarthria at age 70. She died of respiratory disturbance at age 71. During the clinical course, neurological examination revealed neither Babinski sign nor hyperreflexia. No respirator administration was performed throughout the clinical course. Neuropathological examination disclosed not only neuronal loss with gliosis in the hypoglossal nucleus and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tract. Based on these clinicopathological findings and a literature review of sporadic autopsy cases of ALS with long clinical course (10 years or more), including four cases without pyramidal signs, we believe that sporadic ALS of long clinical course mimicking SPMA exists.

Aged↗
PubMed2005

Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy.

PURPOSE: To prospectively evaluate several diffusion-tensor magnetic resonance (MR) imaging indexes (mean diffusivity [MD], fractional anisotropy [FA], and eigenvalues) of corticospinal tract impairment in patients with progressive muscular atrophy (PMA) and patients with amyotrophic lateral sclerosis (ALS). MATERIALS AND METHODS: This study had institutional review board approval, and written informed consent was obtained from all subjects. Eight male patients with PMA (mean age, 63 years +/- 13 [standard deviation]), eighteen patients with ALS (14 men and four women; mean age, 64 years +/- 7), and twelve control subjects (four men and eight women; mean age, 65 years +/- 6) underwent diffusion-tensor MR imaging at which 25 spin-echo echo-planar imaging diffusion-weighted images (b = 1000 sec/mm2) were acquired along noncollinear directions. MD and FA were measured along the corticospinal tracts in each patient and subject. Changes in diffusion along and orthogonal to fiber bundles in patients were evaluated by using diffusion-tensor eigenvalues. Differences in diffusion-tensor imaging indexes between patients with PMA and those with ALS, as compared with these indexes in control subjects, were evaluated with Mann-Whitney testing. Correlations between diffusion-tensor imaging indexes and clinical variables were estimated with Pearson and Spearman rank correlation testing. RESULTS: As compared with MD (697.1 x 10(-6) mm2/sec +/- 28.1) and FA (0.585 +/- 0.032) in control subjects, MD was typically significantly increased (734.7 x 10(-6) mm2/sec +/- 41.2, P = .035) and FA significantly decreased (0.534 +/- 0.053, P = .037) along the corticospinal tracts in patients with ALS, while these parameters showed no significant change in patients with PMA (MD, 707.0 x 10(-6) mm2/sec +/- 44.2; FA, 0.559 +/- 0.028). Estimation of diffusion-tensor eigenvalues revealed normal diffusion along fiber tracts in all patients, while diffusion was increased orthogonal to fiber tracts only in patients with typical ALS. In patients with ALS, MD correlated with disease duration while FA correlated with disease severity. CONCLUSION: Diffusion-tensor MR imaging reveals corticospinal tract impairment in ALS but not in PMA.

Aged↗
PubMed1987

Nemaline bodies in spinal progressive muscular atrophy. An autopsy case.

Numerous nemaline bodies were demonstrated in the pectoralis major muscle of an autopsy case of a 52-year-old woman, who died of respiratory failure after having suffered from spinal progressive muscular atrophy for 1 year. Rod-like structures ultrastructurally indistinguishable from classical nemaline bodies were abundant in both normal-appearing and atrophic myofibers of the pectoralis major muscle but not in the appendicular skeletal muscles. Morphometric analysis of spinal anterior horn cells clearly showed severe depopulation of somatic motor neurons in the lower cervical cord segments. The present case may provide further support for the neurogenic nature of nemaline body formation.

Female↗
PubMed1997

[A case of adult-onset neurenteric cyst presenting as chronic progressive muscular atrophy in lower legs].

A 50-year-old man was admitted, because of motor weakness of the lower limbs, dysesthesia of the left lower extremity, and anuresis. He had an episode of pain in his gluteal region 17 years ago, and then, no abnormalities were detected including myelography in a hospital, followed by slowly progressive muscular atrophy of his lower legs. At 50 years of age, dysuria appeared. He was diagnosed as having neurogenic bladder by urologists, and was admitted to our hospital. On admission, abnormal neurologic findings included: severe muscular atrophy in his lower legs, pes cavus, dysesthesia at the left S1 level, and autonomic bladder. Magnetic resonance imaging (MRI) showed mass lesion involving lower conus and cauda equina. After resection, pathological study revealed the mass was a neurenteric cyst. It is said that the neurenteric cyst causes an asymmetrical and sequential loss of specific neurological functions, with a subsequent return of these functions in the reverse order. That mechanism is not clear. However, in our case, the course of the illness was slowly progressive. We speculate that, because of the cyst's adhesion to cauda equina and perforation through the cyst by a nerve root, the cyst was fixed and caused slowly progressive neurological deficits in proportion to increase of the cyst's size. Our report suggests that a neurenteric cyst, involving the lower conus and cauda equina, can produce severe muscular atrophy in the lower legs.

Age Factors↗