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PubMedDate not supplied

Late postpoliomyelitis muscular atrophy: clinical, virologic, and immunologic studies.

Seventeen relatively young patients, ages 31-65 years (average, 45) with prior poliomyelitis, who after a number of years of stability had experienced new neuromuscular symptoms, were studied. Seven patients had deterioration of functional capacity and then stabilization without new muscular weakness. The other 10 had late postpoliomyelitis muscular atrophy (late PPMA ) characterized by focal progressive muscle weakness, wasting, fasciculations, and muscle pains affecting previously spared muscles or muscles previously affected but recovered. Four patients with late PPMA had lymphorrhages or lymphocytic infiltrates in their biopsied muscle; three of three patients had oligoclonal IgG bands in their spinal fluid, and five had variable peripheral T lymphocyte-subset ratios. In one patient with late PPMA , antibodies to poliovirus were specifically elevated in the cerebrospinal fluid. Our findings indicate that new motor-neuron disease can occur in patients with prior poliomyelitis and that immunopathologic mechanisms may play a role.

Adult↗
PubMed1984

[Sex-linked familial form of progressive spinal amyotrophy in adults].

An X-linked spinal muscular atrophy is reported in one family. Four of the five patients were examined. In three, electromyography, conduction nerve velocities and muscle biopsy were consistent with anterior horn cell disease. Similar families in the literature were reviewed and characteristic data were: 1) adult-onset, 2) proximal, bulbar and facial involvement, 3) prominent perioral fasciculations, 4) frequent association of cramps, tremor and sexual dysfunction (hypogonadism and gynecomastia), 5) very slow progression and favorable prognosis. These characteristics define, among the spinal muscular atrophies, a distinct entity named by several authors Kennedy's disease.

Adult↗
PubMed1995

Expression of transforming growth factor-beta 1 in dystrophic patient muscles correlates with fibrosis. Pathogenetic role of a fibrogenic cytokine.

Duchenne muscular dystrophy is a fatal disorder characterized by progressive muscular weakness, wasting, and severe muscle contractures in later disease stages. Muscle biopsy reveals conspicuous myofiber degeneration and fibrosis substituting muscle tissue. We quantitatively determined mRNA of the potent fibrogenic cytokine transforming growth factor-beta 1 by quantitative PCR in 15 Duchenne muscular dystrophy, 13 Becker muscular dystrophy, 11 spinal muscular atrophy patients, and 16 controls. Higher transforming growth factor-beta 1 expression was greater in Duchenne muscular dystrophy patients than controls (P = 0.012) and Becker patients (P = 0.03). Fibrosis was significantly more prominent in Duchenne muscular dystrophy than Becker muscular dystrophy, spinal muscular atrophy, and controls. The proportion of connective tissue in muscle biopsies increased progressively with age in Duchenne muscular dystrophy patients, while transforming growth factor-beta 1 levels peaked at 2 and 6 yr of age. Transforming growth factor-beta 1 protein was also detected by immunocytochemistry and immunoblotting. Our findings suggest that transforming growth factor-beta 1 stimulates fibrosis in Duchenne muscular dystrophy. Expression of transforming growth factor-beta 1 in the early stages of Duchenne muscular dystrophy may be critical in initiating muscle fibrosis and antifibrosis treatment could slow progression of the disease, increasing the utility of gene therapy.

Age Factors↗
PubMedDate not supplied

[Progressive familial myoclonic epilepsy with bulbo-spinal amyotrophy. Clinical, electrophysiological study, and biopsy of a case].

Two brothers with Progressive myoclonic epilepsy and Juvenile bulbar and spinal atrophy had clinical, neurophysiological study and muscle biopsy. The EEG and polygraphic findings included progressive slowing of the background activity, spontaneous fast generalised spike- and wave discharges and photosensitivity. The EMG revealed pathological spontaneous activity as well as motor unit potentials diminished in number and increased in amplitude and duration; while VDCS and VDCM were normal. Results of muscle biopsy showed no represented "ragged red fibers" with the modified Trichrome stain, while grouped small caliber angular fibers of both histochemical type were visible with the myofibrillar ATPase reaction, but type 2 fibers predominated amongst the atrophic ones. Serum and urine metabolic measurement and lysosomal enzyme activities in leukocytes were all normal. We feel that the reported case might represent a familial syndrome not previously recognized showing non-specific degenerative changes with neuropathological examination. This disorder is similar only to the case reported by Lance J.W. and Ewans W.A. in 1984 "Progressive myoclonic epilepsy, nerve deafness and muscular atrophy".

Adenosine Triphosphatases↗
PubMed1996

Strength gains without muscle injury after strength training in patients with postpolio muscular atrophy.

We evaluated changes in the dynamic and isometric strength in the newly weakened quadriceps muscles and asymptomatic triceps muscles of 6 patients with postpolio muscular atrophy (PPMA) after 10 weeks of progressive resistance strength training. Alterations in muscle size were determined with magnetic resonance imaging. Serum creatine kinase levels were measured throughout training, and histological signs of muscle injury and changes in muscle fiber size and types were assessed with muscle biopsies before and after training. Exercise training led to an increase in dynamic strength of 41% and 61% for the two knee extensor tests, and 54% and 71% for the two elbow extensor tests. Up to 20% of the improvement was maintained 5 months after cessation of training. Isometric strength, whole muscle cross-sectional areas of quadriceps and triceps muscles, and serum muscle enzymes did not change. No destructive histopathological changes were noted in the repeat muscle biopsies, and no consistent changes in muscle fiber size or fiber type percentages were observed. These results demonstrate that a supervised resistance training program can lead to significant gains in dynamic strength of both symptomatic and asymptomatic muscles of PPMA patients without serological or histological evidence of muscular damage.

Biopsy↗
PubMed1994

Intestinal pseudo-obstruction in adult spinal muscular atrophy.

A 42-year-old woman with negative family history had the insidious onset of weakness in her lower extremities 8 years before, in 1983. The disorder slowly progressed to include cramps and muscle twitches. The diagnosis of adult spinal muscular atrophy (SMA) was made when electromyography showed large rapidly firing motor unit-potentials, positive waves, and fibrillation potentials, and when muscle biopsy of the quadriceps revealed severe alterations consistent with neurogenic atrophy. The patient also had severe chronic constipation for many years. More recently she had developed unremitting diarrhea. Gastrointestinal studies showed no evidence of peristaltic contractions in the rectum, delayed gastric emptying, and abnormal jejunal manometry with altered propagation of the migrating myoelectrical complex.

Adult↗
PubMed1993

[A case of X-linked recessive bulbospinal muscular atrophy with demyelinating neuropathy and hypertrophy of the calves].

We report a 53-year-old man of X-BSMA with neuropathy. The patient developed slowly progressive muscular weakness and wasting over a 2-year period with an accompanying numbness in the finger tip. He can run normally but not so fast. When he was aged 52-year old, difficulty in running progressed. General physical examination revealed nothing particular except for hypertension and gynecomastia. He showed muscular weakness and atrophy in the tongue, shoulder girdle, and upper and lower limbs. Calf muscle hypertrophies were prominent on both sides. The tendon reflexes were absent. Slight sensory impairment for vibration and pin-prick was present distally in all limbs. Autonomic nerve dysfunction was not observed. Hyperglycemia, elevated HbA1c and elevated serum CK (1,242 IU/l) were seen. The computed tomographic analyses on skeletal muscle showed hypertrophic changes in the calf muscles with a few fatty infiltrations. Electromyography showed a systemic neurogenic pattern. Motor nerve conduction velocities were slightly delayed in the lower limits. Sensory nerve action potentials were not elicited in all nerves tested. Sural nerve biopsy disclosed marked reduction of myelinated fibres for that of large diameter with thin myelin. Teased fibre studies showed a definite increase in the incidence of fibres with segmental demyelination and remyelination. In electron microscopic examination, typical or atypical onion bulb formation was observed on individual fibres. Axonal changes were minimum. We believe that segmental demyelination observed in this patient is not secondary to axonal damage. We, also, investigated AR gene abnormality by polymerase chain reaction (PCR) in this patient.(ABSTRACT TRUNCATED AT 250 WORDS)

Demyelinating Diseases↗
PubMed1978

Distal chronic spinal muscular atrophy involving the hands.

Six patients are described with a history of slowly progressive wasting of the muscle of the hands and forearms extending over periods of up to 20 years. The clinical, radiological, and electrophysiological findings were consistent with a diagnosis of chronic anterior horn cell degeneration. It is suggested that the patients are affected by a form of distal chronic spinal muscular atrophy affecting the hands.

Action Potentials↗
PubMed1994

[Cervical flexion-induced changes of motor evoked potentials by transcranial magnetic stimulation in a patient with Hirayama disease--juvenile muscular atrophy of unilateral upper extremity].

A 16-year-old girl noticed weakness in the left hand in 1990, which gradually progressed over the next 2 years but then stabilized. Her neurologic and electrophysiological signs were compatible with juvenile muscular atrophy of unilateral upper extremity (Hirayama disease). Cine MRIs demonstrated a mild cervical cord atrophy at the C6 spine level together with an engorged epidural vein at the C4-C6 extradural spaces during neck flexion. Transcranial magnetic stimulation over the motor cortex was carried out with a pickup placed on the contralateral abductor brevis muscle. While neck flexion was maintained, the amplitude of the evoked potentials steadily attenuated and the central motor conduction time lengthened as time passed. After 8 minutes, she began to feel some dullness in the left upper limb. These phenomena were reversible and were observed only on the affected limb. The above facts not only supported the presence of a reversible cortico-efferent dysfunction in Hirayama disease, but also appeared to justify the use of neck collars to treat those afflicted with this entity.

Adolescent↗
PubMed1995

Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration.

Neuromuscular degeneration, nmd, is a spontaneous autosomal recessive mutation in the mouse producing progressive hindlimb impairment caused by spinal muscular atrophy. We used an intersubspecific intercross between B6.BKs-nmd2J/+ and Mus musculus castaneus (CAST/Ei) to map the nmd mutation to mouse Chromosome (Chr) 19 with the most likely gene order: nmd-(D19Sel2, Pygm)-Cntf-Pomc2-D19Mit16-Cyp2c-Got1. nmd maps near muscle deficient, mdf, and has a very similar clinical phenotype, but allele tests and histological differences suggest that nmd is a distinct mutation at a different locus. Although closely linked, nmd recombined with the candidate genes muscle glycogen phosphorylase, Pygm, and ciliary neurotrophic factor, Cntf.

Animals↗
PubMed2004

Dystonia in a 13-year-old boy with secondary progressive multiple sclerosis.

We report a patient who developed relapsing-remitting multiple sclerosis (MS) at 8 years old, and then had a progressive clinical course and dystonia. Dystonia of the patient is probably due to a lesion of the basal ganglia. Abnormal posture or movement disorder is very rarely found in MS, and progressive clinical course is also rare in childhood. The patient is worthy of attention because of his childhood onset, progressive clinical course and dystonia.

Adolescent↗
PubMed2002

Vacuolar myelopathy and vacuolar cerebellar leukoencephalopathy: a late complication of AIDS after highly active antiretroviral therapy-induced immune reconstitution.

Controversy exists as to whether vacuolar myelopathy (VM) responds to highly active antiretroviral therapy (HAART) in a salutary fashion similar to other primary human immunodeficiency virus (HIV)-related neurologic complications such as acquired immune deficiency syndrome (AIDS) dementia complex and progressive multifocal leukoencephalopathy. Herein, we describe the case of a patient with AIDS, non-Hodgkin's lymphoma, and cytomegalovirus colitis, who began HAART and cytotoxic chemotherapy. After 6 months of therapy, restaging studies showed no residual lymphoma or active opportunistic infection. For 2 years he was maintained on HAART, during which time his HIV viral load remained nondetectable and his CD4+ count improved from 20 to 300 cells per microliter. Shortly after developing the acute onset of cerebellar ataxia, he aspirated, developed adult respiratory distress syndrome, and died. At autopsy the spinal cord demonstrated a characteristic vacuolated appearance that extended into the cerebellum. No relation between HIV and the development of VM was discerned by in situ hybridization studies. Experience with this one patient suggests that HAART may not alter the natural history of VM. Whether this case represents yet another variant of the recently described inflammatory immune response syndrome whereby progression of previously quiescent disorders evolve to symptomatic disease after initiation of HAART is uncertain.

Acquired Immunodeficiency Syndrome↗
PubMed1979

Rehabilitation of the rheumatoid shoulder.

In the treatment of the rheumatoid shoulder physiotherapy allows the use of positions relieving the joint of discomfort and preventing deformities. Isometric contractions prevent muscular atrophy. An individual programme of gentle, progressive assisted mobilization permits the total rapid recovery of painful stiffness in simple synovitis and partial recovery of painful stiffness in simple synovitis and partial recovery in the more advanced arthritic lesions. Occupational therapy techniques are proposed to complete the effect of physiotherapy at a means of adapting the patient to the difficulties encountered in daily living.

Activities of Daily Living↗