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PubMed2004

Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.

We present the case of a floppy neonate with marked and generalized weakness, respiratory insufficiency and fetal akinesia deformation sequence. The infant showed multiple joint contractures, two bone fractures and needed mechanical ventilation from birth to death at 16 days of age. Electrophysiological assessment showed electrically unexcitable motor and sensory nerves. Muscle biopsy showed diffuse atrophy of type I and type II fibers. Necropsy confirmed the diagnosis of infantile spinal muscular atrophy (SMA) with severe loss of motor neurons in anterior horns and motor nuclei of brainstem. There were also neuronal loss, gliosis, chromatolysis, ballooned cells, empty cell beds and neuronophagia figures in other brainstem and brain nuclei. Genetic analysis of the patient revealed homozygous deletions of survival motor neuron gene 1 (SMN1) and a single copy of SMN2 in region 5q13. This case confirms that the loss of spinal motor neurons underlies the muscular atrophy in severe cases of 5q SMA. This case also shows that the presence of multiple joint contractures, bone fractures and respiratory insufficiency in SMA in the neonatal period does not necessarily exclude the occurrence of classical deletions in the SMA 5q13 region. Rather, these atypical clinical findings show the extreme severity and prenatal onset of the disease in these SMA cases, which may be related with the occurrence of a single copy of SMN2 gene. More reports of clinically, pathologically and genetically well-documented cases are essential to define the different types of this disease.

Chromosomes, Human, Pair 5↗
PubMed1992

[A mother and her son with autosomal dominant bulbar spinal muscular atrophy].

We reported a 49-year-old mother and her 28-year-old son with autosomal dominantly inherited bulbar spinal muscular atrophy (AD-BSMA). They showed progressive bulbar paresis, muscle wasting and weakness dominant in the proximal groups of limb muscles, and finger tremor. Onset of illness was in adult life. In laboratory examinations, elevated creatine kinase in serum and neurogenic changes either in EMG or muscle biopsy were noted. The son had neither gynecomastia nor abnormal sexual hormone levels which were observed in the sex-linked recessive bulbar spinal muscular atrophy (SR-BSMA). Elongation due to the CAG repeats at the androgen receptor gene of the X chromosome in SR-BSMA was not detected. In conclusion, it is clear that AD-BSMA is different from SR-BSMA on the basis of clinical and genetical aspects.

Adult↗
PubMedDate not supplied

[Bioelectric characteristics of spinal muscular atrophy].

On the basis of the clinical material of the Department of Neurology, Medical Academy in Warsaw the author discusses the bioelectric characteristics of infantile and juvenile spinal muscular atrophy. Attention is called to the specific character of resting firing units in infantile type. On the background of a neurogenic damage pattern the so called "spinal" features of the electromyogram are much more pronounced in the juvenile form of the disease. Motor fibre velocity in small children in the so called group I achieves normal values for a given age later than in healthy children, in long-standing cases of the juvenile form the minimal velocity may be decreased or the conduction velocity may be uniform at the level of the normal maximal velocity. The value of electromyography in the separation of Werdnig-Hoffmann disease from the group of the so called floppy children, and in the differential diagnosis between juvenile spinal muscular atrophy (mainly Kugelberg-Welander disease) and muscular dystrophy is emphasized.

Action Potentials↗
PubMed1993

Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.

We previously reported two siblings with decreased subcutaneous adipose tissue, muscular atrophy, joint contractures, recurrent skin eruptions, hyper-gamma-globulinemia, and reduced natural killer cell activity. Some of their clinical features are similar to those of partial lipodystrophy, but they are distinct in that muscular atrophy, joint contractures and recurrent skin eruptions are not found in patients with partial lipodystrophy. Thirteen other Japanese patients with similar clinical manifestations have been reported. We propose that such cases should be considered a distinct clinical entity.

Contracture↗
PubMed1992

Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family.

We describe a family in which infantile Werdnig-Hoffmann disease and adult-onset progressive muscular atrophy both occurred. The possibility of these two diseases developing within the same family by chance is unlikely, and several genetic hypotheses may be put forward to explain the association. We suggest that the molecular pathogenesis of these two subtypes of lower motor neuron degeneration may be linked. The genetic defect in the childhood spinal muscular atrophies has been mapped to chromosome 5q in close proximity to the microtubule-associated protein 1B locus. The association of diseases within this family suggests that chromosome 5q should also be studied in relation to adult-onset familial motor neuron disease.

Aged↗
PubMed1984

Peroneal muscular atrophy and epilepsy with cerebellar ataxia and choreoathetosis in the same family.

Seven members in three generations of a family are affected with peroneal muscular atrophy. Five have the disorder in combination with epilepsy. The proposita exhibits a cerebellar syndrome, she and one brother show choreiform movements, and she, her mother and a great-uncle have pes cavus. One member has EEG abnormalities but no muscular atrophy. The familial occurrence of this combination of symptoms has not been described before. In this family the syndrome is transmitted as an autosomal dominant with variable expressivity.

Adult↗
PubMed1997

Spinal Muscular Atrophies: An Ongoing Diagnostic Dilemma?

Background: Spinal muscular atrophies (SMAs) are a group of autosomal recessive disorders of anterior horn cell degeneration. Three genes-survival motor neuron (SMN), neuronal apoptosis inhibitory protein (NAIP), and, more recently, p44 (subunit of basal transcription factor II)-have been considered as candidate genes. The region spanning these genes has a complex organization, which makes molecular analysis difficult. Methods and Results: Molecular genetic testing of deletions of exons 7 and 8 of the SMN(T) (telomeric copy) gene and exon 5 of the NAIP(T) (telomeric copy) gene was performed in 39 diagnosed SMA patients, 31 cases referred as possible SMA, and 24 cases of prenatal diagnosis of SMA. Linkage analysis using markers flanking the SMA region was also performed. In general, the findings of involvement of SMN and NAIP gene deletions in patients diagnosed with SMA are in agreement with those previously published. One possible SMA case was found to be homozygously deleted only for exon 7 of SMN(T) and one deleted only for exon 5 of the NAIP(T) gene. Conclusions: SMAs exemplify human inherited disorders in which application of a variety of different techniques and a search for mutations in multiple genes are involved. Deletion testing of candidate genes (SMN, NAIP) is a powerful approach in patients affected or suspected of being affected with SMA. It is proposed that the direct SMN gene deletion test can be offered as the only test for prenatal diagnosis of SMA in families in which the clinically affected sibling has also been shown to have the homozygous deletion.

Journal Article↗
PubMed1997

[Androgen receptor gene (CAG)n of spinal and bulbar muscular atrophy found in the normal child population in Hungary].

A simple and accurate molecular biology method was developed for the diagnosis of the spinal and bulbar muscular atrophy. With this method DNA isolated from peripheral blood of 40 unaffected, apparently healthy children was assayed for the CAG repeat polymorphism responsible for the disease. The results were compared with population genetic studies of international references, and the data showed no differences between the Hungarian repeat length and findings of others. Our experience shows, that this method can be used for the differential diagnosis of muscular atrophies and praenatal diagnostics in affected families.

Child↗
PubMed1989

[Progressive spinal muscular atrophy and parathyroid adenoma. Clinico-pathologic study of a case].

A 82 year-old man died 6 years after the onset of a progressive spinal muscular atrophy. Post-mortem examination disclosed a parathyroid adenoma. Weakness and wasting were prominent in the proximal lower limbs. There were no fasciculations. Involvement of the medulla was mild and late. These clinical features were also present in 16 reported cases, which were improved by treatment of primary or secondary hyperparathyroidism. Our patient differs by the involvement of the hand muscles and the loss of tendon reflexes. Neuropathological study, as in one other reported case, showed a loss of anterior horn cells. Such cases underline that calcium metabolism must be studied in syndromes of spinal muscular atrophy.

Adenoma↗
PubMed1975

Progressive neural muscular atrophy in a case of phenylketonuria.

Clinical, neurophysiological and nerve-biopsy findings are described in a 13-1/2-year-old boy with classical phenylketonuria who developed progressive muscular atrophy. Clinical examination revealed atrophy of the calf muscles and pes varus. Tendon jerks were brisk in the upper extremities but were absent in the right leg and weak in the left leg. Nerve conduction velocities of the median and peroneal nerve were strongly reduced. Light- and electronmicroscopic investigation of sural nerve biopsy revealed axonal dystrophy and 'onion-bulb' formation of the Schwann cells. It is assumed that the combination of phenylketonuria and progressive muscular atrophy in this patient is an accidental occurrence.

Adolescent↗
PubMed1989

[Spinal muscular atrophy in young infants].

Two congenital anterior horn cell diseases may be responsible for neonatal muscular atrophy. The acute Werdnig-Hoffmann disease (SMA-I) has a progressive course, the anterior horn cell degeneration (AHCD) is non progressive in the postnatal period. In case of Werdnig-Hoffmann disease symptoms of hypotonia and muscle weakness may be present at birth, but become progressive during the first months of live. The full clinical picture of AHCD is present at birth. In the latter clinical symptoms of fetal hypokinesia may be noticed during intrauterine life. Histopathological muscle investigation reveals a more or less characteristic neurogenic pattern in Werdnig-Hoffmann disease, in AHCD neurogenic and myopathic changes are variable. Two examples of these diseases will be discussed.

Arthrogryposis↗
PubMed1989

[Two cases of post-poliomyelitis muscular atrophy].

We report two males with progressive post-poliomyelitis muscular atrophy (PPMA) who developed slowly progressive weakness and atrophy in the previously unaffected muscles 50 years after acute poliomyelitis. Case 1 is a 61-year-old male who had suffered from poliomyelitis at the age of 3 years. After recovery from acute symptoms, paralysis remained in the right face, left upper extremity and right lower extremity. Paralysis had remained unchanged until the age of 55 years, when he felt increased fatigue and progressive muscle weakness of all extremities. Neurological examination revealed muscle atrophy of the left upper and right lower extremities, and muscle hypertrophy of the left lower extremity. Deep tendon reflexes were decreased or absent. Babinski sign was negative. Reduction of his physical level and administration of anticholinesterase agents improved his feeling of fatigue. Case 2 is a 66-year-old male who suffered from poliomyelitis in his infancy, and paralysis remained in the left hand and right lower extremity. At the age of 50 years, he felt fatigue, muscle weakness of the previously unaffected legs and joint pain. Neurological examination revealed proximal muscle atrophy and weakness of lower extremities. Deep tendon reflexes were decreased and Babinski sign was negative. Needle electromyography of both cases showed typical neurogenic pattern or high amplitude and polyphasic long duration MMUs. Muscle biopsy of them from quadriceps femoris showed variability in fiber size, moderate increase of internal nuclei, fiber splitting, type grouping, grouped atrophy and scattered small angulated fibers, indicating chronic denervation and reinnervation. The clinical features and laboratory findings of the present two cases are consistent with those of PPMA.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMedDate not supplied

[Progressive supranuclear palsy: description of a case of early occurrence associated with muscular atrophies (author's transl)].

A case of Progressive Supranuclear Palsy (P.S.P.) of early onset (38 years) is described, with somewhat atypical features: the patient was oligophrenic, had no pseudobulbar signs, but there was some muscular atrophy, particularly of the shoulders girdle. On examination there was a slight cortical and cerebellar atrophy on the air encephalogram. Electromyography showed signs of damage to the lower motor neurone which was confirmed by muscular biopsy. In the literature a muscular atrophy in association with P.S.P. is rarely reported clinically although in some cases studied histologically there was degeneration in the nuclei of the cranial and spinal motor nerves. The present case may be an example of such widespread degeneration.

Atrophy↗
PubMed1976

A family of juvenile proximal spinal muscular atrophy with dominant inheritance.

A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuclei.

Adolescent↗