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PubMed1994

Peroneal muscular atrophy with Poland syndrome.

A 22-year-old male college student had a syndactyly between the second and third fingers of his left hand, which was congenitally small in size. His left pectoralis muscles were absent. He first walked at the age of 12 months, but soon developed difficulties in walking due to weakness of the legs. Atrophy and weakness of the legs aggravated gradually. He was diagnosed as having peroneal muscular atrophy and Poland syndrome, an association of which has not been reported before. A small number of similar cases of peroneal muscular atrophy with various skeletal abnormalities in the literature suggest that the association is not incidental, but of clinical significance.

Adult↗
PubMed1990

X-linked spinal muscular atrophy (Kennedy's syndrome). A kindred with hypobetalipoproteinemia.

Kennedy's syndrome, X-linked adult-onset bulbospinal muscular atrophy, has been described in over 30 families. The characteristic distribution of weakness creates a recognizable syndrome, augmented by frequent findings of testicular atrophy and gynecomastia. Type IV or type II hyperlipoproteinemia has been found in some families. We have studied another family with Kennedy's syndrome, this one with hypobetalipoproteinemia. The diversity of serum patterns suggests that lipoprotein abnormalities are not causally related to either the endocrinopathy or the spinal muscular atrophy. However, gene linkage studies indicate proximity of the gene for Kennedy's syndrome and the gene encoding the androgen receptor, which could explain the combination of a motor neuron disorder and the endocrine abnormalities.

Adult↗
PubMed1981

Peripheral neurofibromatosis and peroneal muscular atrophy.

We studied four patients with peripheral neurofibromatosis and a neuropathy that had the clinical characteristics of peroneal muscular atrophy. Nerve conduction velocities were slowed by less than 40% of normal, and electromyography demonstrated denervation. Sural nerve biopsies from two patients, which were macroscopically free of nerve sheath tumors, were studied by recording the compound action potentials in vitro and by morphometry. These studies demonstrated a chronic axonal neuropathy with reactive Schwann cell changes. Peroneal muscular atrophy in association with neurofibromatosis may be due to progressive neuronal degeneration and may represent another, uncommon manifestation of peripheral neurofibromatosis.

Action Potentials↗
PubMed2000

Diaphragmatic spinal muscular atrophy with bulbar weakness.

We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child was born with mild distal arthrogryposis, mild hypotonia and developed marked diaphragmatic and bulbar muscle weakness in the first week of life. Electrophysiological and pathological investigations performed at presentation were not conclusive, while the investigations performed at 3 months showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy.

Bulbar Palsy, Progressive↗
PubMedDate not supplied

Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy.

A female child of healthy parents developed rotary nystagmus at the age of 15 months. Ophthalmoscopy disclosed incomplete optic atrophy. Blood tests, EEG and CT scans were normal. At 20 months progressive muscular weakness and wasting with limb-girdle distribution commenced, followed later by disturbance of gait. From muscle and nerve biopsy the diagnosis of a peripheral neuropathy with neurogenic muscular atrophy was made. No mental change occurred. At 23 months she sustained cardiac arrest and was resuscitated; thereafter, she remained in a vegetative state and expired 9 months later. Her brain was markedly atrophic and firm. Diffuse old ischemic necroses and neuronal loss with gliosis were found in the cortex, the neostriatum, the thalamus, parts of the lower brainstem, and the cerebellum. Her optic nerves and tracts showed complete atrophy. The spinal cord exhibited degeneration and loss of motor neurons with cervical accentuation. The intermediolateral nuclei, the dorsal nuclei and the spinal ganglia were also involved. There was demyelination of the posterior funiculi, the pyramidal tracts, and the sciatic, peroneal, sural, and superior frontal nerve. The voluntary muscles exhibited large group atrophy with liposclerotic change and limb-girdle predominance. The neck, tongue and ocular muscles were also involved, as were, to a less extent, the lower limbs. Although the loss of motor neurons in the spinal cord and at the bulbar level with the typical pattern of neurogenic muscular atrophy, as well as its distribution, resemble the facioscapulo-humoral type of heredity motor neuropathy (HMN), early onset, rapid course, sensory and autonomic involvement, and atrophy of the optic nerve do not fit this or any one type of HMN.

Atrophy↗
PubMed1997

[The spectrum of spinal muscular atrophies: a population study].

A population medical genetic study of spinal muscular atrophies (SMA) was carried out in 1800 individuals in 6 russian and 3 middle asian regions. 33 patients with SMA were ascertained including 29 with autosomal recessive childhood proximal SMA (SMA I-III) and 4 patients with rare SMA types. There were revealed either overlapping of diagnostic criteria of I-III types in some patients or interfamilial differences of types in 3 from 6 familial cases, (one of them with distant relatives affected as well as pronounced clinical genetic variability of rare forms of SMA (all sporadic cases).

Adolescent↗
PubMed2006

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study.

The aim of this study was to validate the Hammersmith functional motor scale for children with spinal muscular atrophy in a large cohort of 90 non-ambulant children with spinal muscular atrophy type 2 or 3. All had a baseline assessment (T0) and were reassessed either at 3 months (T1) (n = 66) or at 6 months (T2) (n = 24). Inter-observer reliability, tested on 13 children among 3 examiners, was > 95%. Of the 66 children examined after 3 months 4 had adverse effects in between assessments and were excluded from the analysis. Forty-two (68%) of the remaining 62 reassessed had no variation in scores between T0 and T1 and 13 (21%) were within +/- 1 point. 9 (37.5%) of the 24 children reassessed after 6 months had no variation in scores between T0 and T2 and another 9 (37.5%) had variations within +/- 1 point. Our study confirms previous observations of the reliability of the scale and helps to establish a baseline for assessing changes of functional ability over 3 and 6 month intervals. This information can be valuable in view of therapeutic trials.

Child↗
PubMed1989

Spinal muscular atrophy: some easy clues to diagnosis.

Seven cases of benign form of spinal muscular atrophy were studied to evaluate the importance of detecting hand tremors, muscle fasciculation, evertion of foot and ECG tremors to distinguish these cases from muscular dystrophy. Taken in combination, diagnosis of all the seven cases was possible without the need for application of more sophisticated and invasive investigations, e.g., EMG, nerve conduction study, CPK levels and muscle biopsy.

Adolescent↗
PubMed2006

Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis.

PURPOSE: We present the results of carrier studies in 33 relatives of the paternal branch of a spinal muscular atrophy patient with homozygous absence of the SMN1 gene. METHODS AND RESULTS: Once linkage and quantitative analyses were performed, a number of first-, second- and third-degree relatives were identified as carriers given that they shared the at-risk haplotype and showed one SMN1 copy. In the fourth-degree relatives, linkage analysis demonstrated discordance with the quantitative results because the members with one copy were carriers of the mutation, but in a different haplotype background. We concluded that two independent mutations were present in this branch of the family. Furthermore, the combination of both methods of analysis allowed us to identify carriers with two SMN1 genes in one chromosome and none in the remaining chromosome. CONCLUSIONS: Carrier testing in spinal muscular atrophy should be performed by employing both quantitative and linkage analyses in order to guarantee accurate carrier identification.

Cyclic AMP Response Element-Binding Protein↗
PubMed2000

[A case of Gerstmann-Sträussler-Scheinker disease with severe muscular atrophy and vertical gaze palsy].

Here we report a case of 56-year-old man with Gerstmann-Sträussler-Scheinker disease (GSS). He had gait disturbance, limb and truncal ataxia, dysarthria and dysphagia at the age of 53. When he developed vertical gaze palsy and dystonic posture of the neck, subcortical dementia, progressive supuranuclear palsy was suspected. Thereafter dementia rapidly progessed, and CT scan showed severe atrophy of the brain. Since severe muscular atrophy and fasciculation also appeared, and abnormality in the codon 102 of prion protein gene was found, he was diagnosed to have the classical type of GSS. GSS with vertical gaze palsy has never been reported, and involvement of the lower motor neuron is also very rare. Therefore, the present case is an atypical type of GSS.

Codon↗
PubMed1989

[X-linked recessively inherited peroneal muscular atrophy].

This article presents a pedigree of 80 members of which there are 13 patients (13 males) with peroneal muscular atrophy. The analysis of this pedigree shows that an affected male married to a normal female will have normal son(s) and carrier-daughter(s). The normal son(s) will have normal offspring, but half the sons of the carrier-daughter(s) will be affected. The pathogenic genes of affected males are transmitted to their daughters, but not to their sons. So this inheritance is of X-linked recessive type. This is the first report of X-linked recessively inherited peroneal muscular atrophy in china.

Adolescent↗
PubMed2004

Muscle MRI findings of X-linked spinal and bulbar muscular atrophy.

We report here muscle MRI findings of the lower limb in X-linked spinal and bulbar muscular atrophy (SBMA). T1-weighted imaging of muscle MRI disclosed that the thigh muscles, including the semimembranosus, biceps femoris longus and the vastus lateralis muscles, showed high intensity signals with atrophy. Contrarily, the sartorius, gracilis and rectus femoris muscles were comparably preserved. Not only the thigh muscles, but also the calf muscles including the gastrocnemius medialis and lateralis, and soleus muscles showed high intensity signals. In amyotrophic lateral sclerosis (ALS), the leg muscles are generally atrophic, but the selective pattern of fatty degeneration, seen in SBMA was not observed. Muscle MRI is a useful method of estimating the distribution and severity of SBMA in affected muscles.

Disease Progression↗
PubMed1996

Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.

Expansion of trinucleotide repeats has now been associated with eight inherited diseases: X-linked spinal and bulbar muscular atrophy, two fragile X syndromes, myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type I, dentatorubral pallidoluysian atrophy and Machado-Joseph disease. It has been shown that these expanded DNA repeats are unstable in number when transmitted from parents to offspring ("meiotic instability"), while somatic variation in repeat number has also been found in the fragile X syndrome and myotonic dystrophy. Moderate meiotic instability has been demonstrated in X-linked spinal and bulbar muscular atrophy (SBMA, Kennedy's disease). In order to determine if the expanded CAG repeat in SBMA also shows somatic instability, we compared different tissues from two patients with SBMA. We then examined the in vitro stability of the CAG repeat expansion by analyzing fibroblast cell cultures. Length comparison of expanded CAG repeats from all these materials clearly demonstrates that the CAG trinucleotide repeat in SBMA does not exhibit somatic variation.

Cells, Cultured↗
PubMed2005

Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death.

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in the telomeric copy of the survival motor neuron (SMN1) gene. Although the SMN protein has been implicated in the biogenesis of ribonucleoprotein complexes and RNA processing, it is not clear how these functions contribute to the pathogenesis of SMA. To gain a further understanding of SMN function, we have investigated its role in cell survival in skin fibroblasts derived from SMA patients and age-matched controls. SMA fibroblasts exposed to camptothecin, a specific inhibitor of DNA topoisomerase I, consistently showed cell death at a lower concentration than normal controls. Treatment with other cell death-inducing agents did not cause differences in survival of SMA fibroblasts as compared with control fibroblasts. Camptothecin treatment resulted in activation of caspase-3 with generation of the caspase-3 cleavage product, poly ADP-ribose polymerase (PARP). Depletion of SMN protein by RNA interference in control fibroblasts increased caspase-3 activity, whereas transfection of SMA fibroblasts with wild-type SMN decreased caspase-3 activity. Our data demonstrate that SMA fibroblasts are more prone to some, but not all, death-stimuli. Vulnerability to death-stimuli is associated with decreased levels of SMN protein and is mediated by activation of caspase-3.

Atrophy↗
PubMedDate not supplied

Correlative light optical, scanning electron, and transmission electron microscopy of skeletal muscle in muscular dystrophy and muscular atrophy: a pilot study.

Biopsies of skeletal muscle from three different cases of muscular dystrophy and one case of spinal muscular atrophy that has been fixed with Karnovsky's fluid were either routinely prepared for scanning electron microscopy (SEM) or were frozen to -20 degrees C and sectioned on a steel knife in a cryostat at 5-10 micrometer. The sections were coverslipped and examined using a light microscope equipped with polarizing optics (Pol). After areas were selected, the sections were prepared for SEM and thereby examined. The tissues on the slides that had been observed with light microscopy (LM) and SEM were prepared further for transmission electron microscopy (TEM) by infiltrating them with Epon and cutting sections at approximately 100 nm on an ultramicrotome. It is shown that the stage of contraction in one pathologic myofiber may vary along its length. The following advantages may be realized by using correlative (Pol leads to SEM leads to TEM) microscopy on skeletal muscle biopsies: 1) lesions can be differentiated from "normal" surrounding tissue; 2) doubtful structures can be reexamined with the SEM and TEM; and 3) the SEM image of different states of muscle contraction can be reinterpreted in the light of the Pol or TEM image.

Adolescent↗
PubMed2002

Molecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity.

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive disorders characterized by degeneration of anterior horn cells in the spinal cord, and leads to progressive muscular weakness and atrophy. At least three SMA-related genes have been identified: SMN1, NAIP and p44t. We analyzed these genes in 32 SMA patients and found that the SMN1 gene was deleted in 30 of 32 patients (94 %), irrespective of clinical type. The NAIP gene was deleted in 6 patients and its deletion rate was higher in type I patients than that in type U or V. Further, in type I patients lacking the NAIP gene, deterioration in their respiratory function is more rapid than in those type I patients retaining the NAIP gene. Since complete p44t deletion was observed in only 3 patients, the correlation between the p44t deletion and severity of SMA remained ambiguous. We concluded that the NAIP deletion was closely related to the clinical severity of SMA and was a predictive marker of SMA prognosis, while the SMN1 deletion did not correlate with clinical severity.

Adult↗
PubMed1995

Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?

The purpose of this study was to further identify and quantify the fatty acid oxidation abnormalities in spinal muscular atrophy, correlate these with disease severity, and identify specific underlying defect(s). Fifteen children with spinal muscular atrophy (3 type I, 8 type II, 4 type III) were studied. Serum carnitine total/free ratios demonstrated a tendency toward an increased esterified fraction ranging 35-58% of total carnitine (normal: 25-30% of total) in younger children with types I and II. The remaining type II and III patients, older than 23 months of age at sampling, had normal esterified carnitine levels. Urinary organic acid analysis demonstrated mild to moderate medium-chain dicarboxylic aciduria in type I patients and normal, mild, or moderate increases in short-chain and medium-chain organic acids in type II patients. In the type III group, the organic acids were normal except for one patient with mild medium-chain dicarboxylic aciduria. Muscle intramitochondrial beta-oxidation was measured in 5 children (2 type I, 2 type II, and 1 type III) and a significant reduction in the activities of short-chain L-3-hydroxyacyl-CoA dehydrogenase, long-chain L-3-hydroxyacyl-CoA dehydrogenase, acetoacetyl-CoA thiolase, and 3-ketoacyl-CoA thiolase were found; however, normal crotonase activity was documented. Most strikingly, there was a marked increase (3- to 5-fold) in the activity ratios of crotonase to L-3-hydroxyacyl-CoA dehydrogenase and thiolase activities with both short- and long-chain substrates. The combined abnormalities suggest a defect in a mitochondrial multifunctional enzyme complex, distinct from the trifunctional enzyme. These abnormalities may be either primary or secondary and may respond to dietary measures to reduce the dependence on fatty acid oxidation.

3-Hydroxyacyl CoA Dehydrogenases↗
PubMed1991

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion.

We have evaluated a young woman with segmental spinal muscular atrophy, who has a deletion of a portion of the long arm of chromosome 18. She also has vitiligo and lichen sclerosis et atrophicus. She has neither the facial dysmorphism nor the mental deficit usually associated with the 18q- syndrome. Magnetic resonance imaging scan of her brain demonstrates high signal intensity consistent with abnormal myelination. Southern blot analysis of her DNA demonstrates that the deletion includes the gene for human myelin basic protein. Neither spinal muscular atrophy nor this patient's skin manifestations have been previously reported in association with 18q-.

Adult↗