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PubMedDate not supplied

[Post-polio syndrome. A case report].

Certain acute anterior poliomyelitis survivors express complaints of abnormal fatigue, weakness and muscular atrophy many years after acute onset. These are basic clinical symptoms of so-called post-polio syndrome (PPS). PPS is characterized by a relatively slow, but progressive pathological muscular process, in some cases leading to functional impairment of daily living and professional activity. Breathing, speaking and swallowing impairment are common but not severe medical problems of post-polio patients. Diagnosis is usually based on a typical medical history, electromyographic investigation and exclusion of other diseases presenting similar features. We report a case of PPS in a 49-year-old woman diagnosed in the Neurological Department in Zabrze. Thirty six years after acute anterior poliomyelitis with partial recovery, new symptoms of fatigue, muscular atrophy, exertional dyspnea, walking impairment and joint pain developed. Electromyography revealed features of coexisting spinal denervation and reinnervation in tested muscles. The differential diagnosis excluded other neuromuscular diseases. The patient fulfilled clinical and electromyographic criteria of PPS.

Dyspnea↗
PubMed2001

Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.

Limb girdle muscular dystrophies (LGMDs) are a group of clinically heterogeneous genetic diseases characterized by progressive weakness and atrophy of scapular and pelvic muscles, with either a dominant or recessive autosomic mode of inheritance. The first symptoms of the disorder appear during the first 20 years of life and progresses gradually, and a walking disability develops 10-20 years later. The gene responsible for LGMD2A has been identified and encodes calpain 3, a protease expressed mainly in skeletal muscle. Apoptotic myonuclei were recently detected in muscular biopsy specimens of LGMD2A patients, and apoptosis was found to be correlated with altered subcellular distribution of inhibitory protein kappaBalpha (IkappaBalpha) and nuclear factor kappaB (NF-kappaB), resulting in sarcoplasmic sequestration of NF-kappaB. Calpain 3 dependent IkappaBalpha degradation was reconstituted in vitro, supporting a possible in vivo sequence of events leading from calpain 3 deficiency to IkappaBkappa accumulation, prevention of nuclear translocation of NF-kappaB, and ultimately apoptosis. Therefore calpain 3, present in healthy muscle as sarcoplasmic and nuclear forms, may control IkappaBalpha turnover and indirectly regulate NF-kappaB dependent expression of survival genes. Recent data reported from a new model of LGMD2A in mice and from other muscular disorders strengthen understanding of the molecular links between calpain 3 and the Ikappaalpha/NF-kappaB pathway. Finally, in light of the lack of apoptosis observed in inflammatory myopathies, a unifying model for the control of cell survival in muscle is proposed and discussed

Animals↗
PubMedDate not supplied

[A case of progressive bulbar paralysis in a child (Fazio-Londe disease)].

The reported case was diagnosed in a girl aged 14, in whom the first signs developed at the age of 6, with progressive involvement of the cranial nerves IX, X, XI and XII, and V with VII. After ruling out other possible causes the diagnosis of the Fazio-Londe disease was established. Electromyographic examination confirming the diagnosis demonstrated also evidence of changes of neurogenic type in the muscles of upper extremities despite absence of demonstrable clinical abnormalities, which, as suggest the authors, may support the hypothesis of the similarity of the disease to other forms of spinal muscular atrophy, such as Werdnig-Hoffman and Kugelberg-Welander diseases.

Adolescent↗
PubMed2005

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group.

Spinobulbar muscular atrophy (SBMA) is an X-linked form of motor neuron disease characterized by progressive atrophy of the muscles, dysphagia, dysarthria and mild androgen insensitivity. SBMA is caused by CAG repeat expansion in the androgen receptor gene. CAG repeat polymorphism was analysed in a Polish control group (n = 150) and patients suspected of SBMA (n = 60). Normal and abnormal ranges of CAG repeats were established in the control group and in 21 patients whose clinical diagnosis of SBMA was molecularly confirmed. The ranges are similar to those reported for other populations.

Case-Control Studies↗
PubMed2004

Advanced Hirayama disease with successful improvement of activities of daily living by operative reconstruction.

Juvenile muscular atrophy of the distal upper extremity (Hirayama disease) is a benign and non-progressive motor neuron disease. Application of a cervical collar is believed to prevent progression of symptoms in the early stages, but there is no effective therapy for the advanced disease. We found that tendon transfer improved the activities of daily living (ADL) of a patient with advanced Hirayama disease. An operative reconstruction can be valuable, even in patients with Hirayama disease who have developed impaired ADL due to extensive intrinsic hand muscle atrophy.

Activities of Daily Living↗
PubMed2000

[Acute gastric dilatation in Duchenne's muscular dystrophy].

A 15 year old boy with Duchenne muscular dystrophy had severe pain in the lower abdomen and complained of nausea and bilious vomiting. A physical examination and an abdominal X-ray indicated an acute gastric dilation. With a treatment policy of administering nothing orally, a downward-hanging stomach tube and the intravenous administration of fluid the symptoms subsided. In Duchenne muscular dystrophy there may also be atrophy of the smooth muscle layers, in addition to the known progressive atrophy of striated skeletal and cardiac muscle. This may cause clinical dysfunctioning of the gastro-intestinal tract in the second decade of life.

Abdominal Pain↗
PubMed1984

[Chronic distal spinal amyotrophy localized to the both upper limbs (O'Sullivan and McLeod type)].

A case of sporadic spinal muscular atrophy affecting the upper limbs and with a chronic course over 19 years is reported, features of the affection being similar to the rare cases reported in the literature. Distinguishing aspects of these cases are those of a particular topographical form of chronic spinal muscular atrophies: onset in adolescents or young adults, symmetrical weakness and atrophy of the small muscles of the hands sometimes extending to the forearms, a progressive and slow course, absence of sensory or pyramidal signs, normal findings on cervical cord examinations neurogenic electromyogram recordings and normal nerve conduction rates.

Arm↗
PubMed2000

Progressive infantile axonal polyneuropathy.

Polyneuropathies are relatively uncommon in early infancy and the majority of affected children are found to have hypomyelinating neuropathies. Axonal sensorimotor neuropathies have been described in childhood but the majority of affected children present at or after 6 months of age, have nonprogressive courses, and achieve the ability to walk, albeit late. Here we present three infants with infantile progressive axonal polyneuropathy from two families with nonconsanguineous parents. Each child presented shortly after the neonatal period and with rapid progression to quadriplegia. Involvement of the lower cranial nerves, phrenic nerves, or both was present in each child. Electrophysiology was diagnostic in each child. While the diagnosis of spinal muscular atrophy was considered in each case, clinical presentation, biopsies, and genetic testing were inconsistent with this diagnosis. Recognition of this early form of progressive axonal neuropathy is important as respiratory compromise occurred early and the condition showed familial inheritance in two of our patients.

Age of Onset↗
PubMed1992

Analysis of the CAG repeat region of the androgen receptor gene in a kindred with X-linked spinal and bulbar muscular atrophy.

Herein we describe a family with X-linked spinal and bulbar muscular atrophy (SBMA or Kennedy's disease), an adult onset neuromuscular disease characterized by slow progression, predominant proximal and bulbar muscle weakness. One frequent association is the appearance of gynecomastia. This disorder was previously shown to be linked to the locus DXYS1 on the proximal long arm of the X chromosome. Recently, a report implicated a mutation at the N-terminus of the androgen receptor gene involving amplification of CAG repeats as the cause of X-linked SBMA. We studied this region of the androgen receptor in a kindred clinically suspected but not confirmed of having X-linked SBMA by the polymerase chain reaction (PCR) followed by Southern analysis and DNA sequencing. The mutated allele was found to have an increased number of 51 CAG repeats confirming the clinical diagnosis of SBMA. Normal individuals revealed 23 repeat numbers within the normal range, while another unrelated X-linked SBMA patient had an enlarged CAG repeat region. The carrier or disease status could be established or confirmed in 12 individuals of this family on the basis of detecting normal and disease alleles reflected by the number of CAG repeats.

Adult↗
PubMedDate not supplied

[Juvenile monomelic amyotrophy: Hirayama disease].

We present three patients with unilateral upper limb weakness (with muscular atrophy)-two of them with distal and one with proximal localization. The disease onset was between 18th end 35-th year of life; the disease course was biphasic (i.e. progressive within first 1 to 3 years, and stabilized during following 4-24 years). The laboratory investigations permitted to diagnose juvenile monomelic amyotrophy, an entity that is very rare outside Japan. Electromyography revealed neurogenic involvement with spinal features also in clinically unaffected muscles. We suggest that these results may support the hypothesis of this disease being a benign variant of spinal muscular atrophy.

Adult↗
PubMedDate not supplied

Idiopathic polyneuropathy in Alaskan malamutes.

Clinical and morphologic features of a progressive polyneuropathy in young mature Alaskan Malamutes are described. Clinical signs included progressive paraparesis, synchronous pelvic limb gait, exercise intolerance, hyperesthesia, hyporeflexia, muscle atrophy, and tetraplegia. Electromyographic testing revealed diffuse fibrillation potentials and positive sharp waves in limb muscles, especially in muscles below the elbow and stifle. Pathologic findings in skeletal muscles and peripheral nerves included neurogenic muscle atrophy, focal or diffuse loss of myelinated nerve fibers, myelinoaxonal necrosis, and variable demyelination or remyelination. Ultrastructural changes included axonal degeneration, presence of numerous Büngner bands, and denervated Schwann cell subunits. The nature and distribution of abnormal electrophysiologic and pathologic findings were suggestive of a distal sensorimotor polyneuropathy, which we have termed idiopathic polyneuropathy of Alaskan Malamutes to distinguish this condition from hereditary polyneuropathy of Norwegian Alaskan Malamutes, last described in 1982.

Animals↗
PubMed1996

Fatal congenital myopathy with actin filament deposits.

We present the clinical and morphological findings in a case of progressive congenital myopathy. The symptoms present at birth included severe general muscular hypotonia, diffuse muscular atrophy, arthrogryposis, absence of spontaneous movements, and left ventricular hypertrophy. A biopsy specimen taken from the gastrocnemius muscle when the patient was 2 weeks old revealed deposits which consisted of actin filaments as shown by electron microscopy. The infant was occasionally respirator dependent but was mostly able to breathe unassisted. At the age of 5 months he died of respiratory failure. The actin filament deposits may explain the clinical findings.

Actins↗
PubMed1992

Peripheral neuropathy in German shepherd dogs.

Three aged (10-year-old) German Shepherd Dog litter mates, separately reared, were affected with familial and adult onset peripheral neuropathy. They developed clinical signs, unsteady gait of their hind legs with progressive muscular weakness at almost the same time. The main lesions were systemic neurogenic muscular atrophy, segmental demyelination and Wallerian degeneration of the peripheral nerve fibres. Histochemically, collateral ramification and multiple terminal arborization were observed in terminal axons of motor neurones in the muscles. These changes were attributed to a dying-back process.

Animals↗
PubMed1991

[A case of adult-onset nemaline myopathy (adult-onset rod disease) with distal muscular hypertrophy].

We reported a 40-year-old male with adult-onset nemaline myopathy (adult-onset rod disease) showing muscular hypertrophy of distal limbs. At the age of 25, he noticed thinness of his thighs. Difficulty in climbing stairs slowly progressed from the age of 35. On admission neurological examination revealed muscular weakness and atrophy of proximal limbs and hypertrophy of distal flexors. Normal laboratory tests included serum creatine kinase, myoglobin, aldolase and pyruvate. Electromyography revealed severe neurogenic changes in the right biceps brachial muscle and the right quadriceps muscle, and moderate changes in the right gastrocnemius. Biopsy specimen of the deltoid muscle demonstrated type 1 fiber predominance and type 1 fiber atrophy, and there was small group atrophy and type grouping. Abundant nemaline rods were found mainly in type 1 fibers (81.5%). In order to evaluate hypertrophy of calf muscles, T1-weighted MRI of lower extremity was performed. While transaxial images through mid thigh showed moderate fatty replacement, increased volume and little fatty replacement were found in the mid calf. Therefore, hypertrophy of the calf muscle seemed to be compensative hypertrophy. But in this case neurogenic factors were indicated electromyographically and histologically. These findings may advocate the notion that neurogenic factors involved not only congenital but adult-onset rod disease.

Adult↗
PubMed1991

[A new type of complicated form of hereditary spastic paraplegia showing mental deterioration, quadriplegia with muscular atrophy, sensory disturbance, extrapyramidal disorders, and epilepsy].

UNLABELLED: This study proposes a new type of complicated form of hereditary spastic paraplegia (HSP) and some problems on a clinico-pathological classification of HSP. The present study includes three male and two female patients from two families (A and B). In the family A, four siblings (two males and two females) were affected. Spastic paraplegia developed as an initial symptom. In the family B, a man was affected with spastic paraplegia which had started at the age of eleven. His two half-sisters are normal. All parents in two pedigrees are healthy. The parents in the family B are first cousins. CLINICAL FEATURES: Their physical development was normal, but all of them showed mild mental retardation. Gait disturbance due to spastic paraplegia and mental deterioration developed at the age of high teens. At the age of high 20's, they became unable to walk, because of progressive spastic paraplegia and other complicated neurological impairments including pyramidal disorders in the upper limbs, generalized neurogenic muscular atrophy, sensory disturbance and bradykinesia. Some cases showed rigidity and/or spasticity. At the age of high 30's, they became bed-ridden, because of quadriplegia with generalized muscular atrophy. Three cases in the family A suffered from convulsions which started at the high 30's. Mild athetoid movement in the face and neck was observed in three cases in the family A. All patients became apathetic and indifferent at least by the age of 40. Laboratory findings and data: CT scan yielded brain atrophy and dilatation of the lateral ventricles, atrophy of the corpus callosum and hyperostosis of the cranium.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗