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PubMed1993

Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991.

The methods of the Danish Bovine Genetic Disease Programme are outlined, and the results obtained during the first 3 years in function are described. The most common disease reported was spinal muscular atrophy in calves of the Red Danish Dairy breed with 312 reports. Necropsy was performed on 162 cases, and spinal muscular atrophy was diagnosed in 82 of these. Bovine progressive degenerative myeloencephalopathy, rectovaginal constriction, syndrome of arthrogryposis and palatoschisis, hereditary chondrodysplasia (2 different types), syndactylism, epitheliogenesis imperfecta, and osteogenesis imperfecta was diagnosed with 1 case each. Lethal trait A46 was diagnosed in 4 calves. Some of these diseases have not previously been described in Denmark, and epitheliogenesis imperfecta was for the first time diagnosed in the Hereford breed. Chromosome translocation 1/29 was detected in the Blonde d'Aquitaine (BAQ), Limousine, and Red Danish Dairy breed. The aberration occurred frequently in BAQ. Furthermore, a complex chromosome translocation t(1;8;9)(q45;q13;q26) was detected in the Red Danish Dairy breed.

Abnormalities, Multiple↗
PubMedDate not supplied

Triple osteotomy of the innominate bone. A procedure to accomplish coverage of the dislocated or subluxated femoral head in the older patient.

The triple osteotomy of the innominate bone is a total redirectional reconstruction and is obtained by circum-acetabular osteotomies through the ilium, ischium and pubis. The method achieves coverage of a dislocated or subluxated femoral head where other iliac osteotomies are ineffective or incomplete. Triple osteotomy was performed on 175 hips including 121 congenital dislocation-subluxations. The patients' ages ranged from 6 to 35, with 70 per cent falling between 9 and 12. Eighty-six per cent had a satisfactory result. Most of the unsatisfactory results were in cerebral palsy, myelodysplasia and peroneal muscular atrophy and associated with uncontrolled muscle contractures or progressive disease.

Adolescent↗
PubMed1996

[A late onset familial amyloidotic polyneuropathy (FAP) with a novel variant transthyretin characterized by a basic-for-acidic amino acid substitution (Glu61-->Lys)].

A 64-year-old man has suffered from intractable diarrhea since January 1990. He noticed numbness and weakness in the distal portion of four extremities in the following several months. His symptoms were gradually progressive. In June 1992, neurological examination revealed mild muscular atrophy and weakness in the proximal and distal portions of four extremities. There were paresthesia and severe impairment of superficial sensations in the lower limbs, lower half of the trunk and upper limbs. All deep tendon reflexes were reduced or absent. Autonomic dysfunctions such as orthostatic hypotension, impotence and diarrhea were evident. On sural nerve biopsy, myelinated fibers showing axonal degeneration were predominantly seen, and densities of both myelinated and unmyelinated fibers were markedly decreased. No amyloid deposits were found in the endoneurium. Amyloid deposition was identified in the gastric mucosa by Congo red staining and immunostaining with anti-transthyretin (TTR) antibody. Edman degradation showed one amino acid substitution of Lys for Glu at position 61 in the TTR-peptides from the serum. Direct DNA sequencing revealed a new point mutation in the 61st codon of TTR gene. The same point mutation of TTR gene was identified in the DNAs from his 67-year-old brother and 63-year-old sister and one of the paternal cousins, a 64-year-old woman, although their clinical symptoms and signs were negative. Clinical features such as late onset of the symptoms and signs and presence of carriers in their sixties in this family are unique and atypical as compared with those of more frequent Val30-->Met FAP families. A variant TTR, characterized by a Glu61-->Lys substitution (a basic-for-acidic amino acid substitution) found in this family, has not been reported in the literature. In the case of the examination of the patients with autonomic and sensory symptoms and signs of unknown etiology, amyloidotic polyneuropathies, including FAP even in the absence of the family history, should be differentiated. When FAP is highly suspected, the combination of family study and DNA analysis of a possible variant TTR is indispensable for the establishment of the diagnosis.

Age of Onset↗
PubMed2006

Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients.

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord resulting in progressive muscle weakness and atrophy. AIMS: The molecular analysis of two marker genes for spinal muscular atrophy (SMA) i.e, the survival motor neuron gene (SMN) and the neuronal apoptosis inhibitory protein gene (NAIP) was conducted in 39 Indian patients with clinical symptoms of SMA. Out of these, 28 showed homozygous deletions and the phenotypic features of these SMA patients were compared with the corresponding genotypes. SETTINGS: A tertiary care teaching Hospital. DESIGN: This is a prospective hospital based study. MATERIALS AND METHODS: Polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was used to detect the deletion of exon 7 and exon 8 of SMN1 gene, as well as multiplex PCR for exon 5 and 13 of NAIP gene. RESULTS: Exons 7 and 8 of SMN and NAIP (exon 5) were homozygously deleted in 73% of SMA I and 27% of SMA II patients. SMN exon 7 and 8 deletions without NAIP deletions were seen in 27% of type I SMA and 46% of SMA type II patients. Two patients of type III SMA showed single deletion of SMN exon 7 along with 27% of SMA type II patients. CONCLUSION: With the advent of molecular biology techniques, SMN gene deletion studies have become the first line of investigation for confirmation of a clinical diagnosis of SMA. The findings of homozygous deletions of exons 7 and/or 8 of SMN1 gene confirms the diagnosis of SMA, even in patients with atypical clinical features. Deletions of NAIP gene were mainly seen in severely affected patients, hence is useful for predicting the prognosis.

Adolescent↗
PubMedDate not supplied

Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease.

Few studies have examined the effect of pain on the quality of life of individuals with slowly progressive neuromuscular disease (NMD). The purpose of this study was to determine the frequency and extent to which subjects with slowly progressive NMD report pain and the association between pain and health-related quality of life in persons with NMD. The study design was a descriptive, nonexperimental survey. Of a total of 1,432 subjects with slowly progressive NMDs recruited from a university-based NMD clinic and the membership rosters of worldwide NMD support organizations, 859 agreed to participate. The primary measurement tool used was the Medical Outcomes Study SF-36 health survey. Our results indicated that, with the exception of adult spinal muscular atrophy (SMA), the frequency and severity of pain reported in slowly progressive NMDs was significantly greater than levels of pain reported by the general US population and was comparable to pain reported by subjects with osteoarthritis and chronic low back pain. There was a significant correlation between increased pain and lower levels of general health, vitality, social function, and physical role. Pain was moderately associated with increased fatigue, inability to cope adequately with stress, and sleep disturbance. In conclusion, with the exception of adult SMA, the frequency and severity of pain reported in slowly progressive NMDs was significant.

Activities of Daily Living↗
PubMed1981

X-linked spinal and bulbar muscular atrophy of late onset (Kennedy-Stefanis disease?).

X-linked spinal and bulbar muscular atrophy of late onset is a rare variety of motor neuron disease. In this report a Greek family with 2 affected brothers is described. It is interesting that all Greek cases of this disease originate from a small group of Greek islands. Transient fatigue is an additional feature of the disease which is manifested sometimes before other symptoms are apparent. The progression of the disease appears to be faster than in spinal muscular atrophy of Wohlfart-Kugelberg-Welander. Regarding the name of this disorder, we propose the descriptive term, 'X-linked spinal and bulbar atrophy of late onset' or 'Kennedy-Stefanis disease.

Brain Diseases↗
PubMed2001

Progressive amyotrophy as a late complication of myelopathy.

A delayed syndrome of progressive weakness has been described in survivors of paralytic poliomyelitis - "Post-Polio Muscular Atrophy (PPMA)". One proposed etiology is a drop-out of motor neurons due to increased metabolic demands of an enlarged motor unit territory. We report a patient with slowly progressive lower extremity weakness 20 years after recovery from an episode of myelopathy involving the lower lumbar and sacral segments of the spinal cord. Delayed progressive amyotrophy may complicate any significant injury to anterior horn cells.

Adult↗
PubMed1990

Functional testing.

Functional testing is useful to monitor the natural history of several neuromuscular disorders, and to measure the efficacy of therapeutic agents in clinical trials. A major limitation of functional testing is that a single test is often not appropriate throughout all stages of disease. The same limitation holds true for other measurements of disease progression. MMT and quantitative myometry become technically difficult to perform and lack sensitivity to disease progression at some stages in the course of DMD, ALS, and spinal muscular atrophy. Other limitations of functional testing are its lack of sensitivity to detect a subtle improvement or decline in muscle strength, and the difficulty of applying standard statistical methods to analyze disease progression or therapeutic efficacy. The advantages of functional testing outweigh the limitations. Function testing uses daily activities to monitor disease progression. Patient's appreciate improvements in function more readily than improvements in muscle strength. Functional testing is easily standardized and is reliable. It can be performed, with little or no expense, in almost any clinical setting. The primary challenge for investigators who wish to incorporate functional tests is to identify functional tests that best measure the natural history of the specific disease under investigation. Further, functional testing allows the clinician to provide an educated guess on the likely future course of disease.

Activities of Daily Living↗
PubMed2005

Respiratory failure in a patient with antecedent poliomyelitis: amyotrophic lateral sclerosis or post-polio syndrome?

We report a 69-year-old man who developed paralytic poliomyelitis in childhood and then decades later suffered from fatal respiratory failure. Six months before this event, he had progressive weight loss and shortness of breath. He had severe muscular atrophy of the entire right leg as a sequela of the paralytic poliomyelitis. He showed mild weakness of the facial muscle and tongue, dysarthria, and severe muscle atrophy from the neck to proximal upper extremities and trunk, but no obvious pyramidal signs. Electromyogram revealed neurogenic changes in the right leg, and in the paraspinal, sternocleidomastoid, and lingual muscles. There was a slight increase in central motor conduction time from the motor cortex to the lumbar anterior horn. Pulmonary function showed restrictive ventilation dysfunction, which was the eventual cause of death. Some neuropathological features were suggestive of amyotrophic lateral sclerosis (ALS), namely Bunina bodies. In patients with a history of paralytic poliomyelitis who present after a long stable period with advanced fatal respiratory failure, one may consider not only respiratory impairment from post-polio syndrome but also the onset of ALS.

Aged↗
PubMed1989

Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

In 1980 Young and Harper described a family with an unusual form of distal spinal muscular atrophy associated with vocal cord paralysis. We report a family with three similarly affected subjects. Progressive sensorineural hearing loss was an additional feature in our patients. Electrophysiological and histological investigations did not exclude an involvement of sensory neurones. Whether the classification of this dominant disorder with the spinal muscular atrophies is justified will depend on additional studies in further families.

Acoustic Impedance Tests↗
PubMed2001

Lung function measurements in young children with spinal muscle atrophy; a cross sectional survey on the effect of position and bracing.

BACKGROUND: Spinal muscular atrophy (SMA) affects respiratory muscles, which in addition to progressive scoliosis leads to respiratory impairment. Children with developing scoliosis are usually treated with spinal bracing to delay the progress. AIMS: To assess the impact of body position and application of spinal bracing on lung function during tidal breathing in children with SMA. METHODS: Lung function was determined by tidal flow volume loops and passive respiratory mechanics (single breath occlusion technique) in all eight children in southern Norway with SMA type I and II, in both the sitting and supine position. Additional measurements were performed with and without bracing in five children. Muscle strength was assessed by the Brooks scale. RESULTS: Tidal expiratory volume (V(E)) and compliance of the respiratory system (CRS) tended to be higher in the sitting compared to the supine position, but this was not statistically significant. However, applying bracing in the sitting position significantly reduced V(E). The highest values of CRS and V(E) were found in the sitting position without bracing. CONCLUSION: Impairment of tidal respiration must be considered when applying spinal bracing in very young children developing scoliosis with SMA.

Braces↗
PubMed2002

Distinct expression of neuronal apoptosis inhibitory protein (NAIP) during murine development.

The childhood spinal muscular atrophies (SMAs) are autosomal recessive neurodegenerative conditions characterized by progressive degeneration of lower motor neurons. The gene encoding NAIP (neuronal apoptosis inhibitory protein) has been proposed to be a modulator of the severity of SMA and is frequently deleted in type I SMA. In this study we have assessed NAIP (murine homologue of NAIP) transcript levels during mouse embryogenesis. NAIP mRNA is present in the developing brain and spinal cord of E9.5-E14.5 mouse embryos as detected by various in situ hybridization techniques. It is also found in the embryonic branchial arches, the nasal epithelium and in the future digits. At E16.5, NAIP mRNA transcripts were found in the marginal zone of the lateral ventricle, the follicles of the vibrissae, in the retina and in the intestinal villi. These results are the first report of NAIP gene transcript levels in embryogenesis. If motor neuron attrition occurs in the second and third trimester of gestation in SMA, the observation of NAIP transcription in the mouse spinal cord between E9.5 and E14.5 is consistent with a role for NAIP in modifying this disorder.

Animals↗
PubMed1974

Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex.

A family is described in which a hereditary peripheral neuropathy occurs, inherited as an autosomal dominant character. The syndrome is present at birth and does not show any significant progression thereafter. Three of the cases have suffered from arthrogryposis multiplex congenita. A secondary myopathy is also present. The condition appears to be intermediary between peroneal muscular atrophy and Friedreich's ataxia. Appearance at birth, presence of arthrogryposis multiplex congenita, and the non-progressive nature separate it sharply from the other heredofamilial ataxias and peripheral neuropathies.

Adult↗
PubMed2002

[Progressive spinal amyotrophy type I or Werdnig-Hoffman disease. Apropos of 5 cases in Dakar (Senegal)].

Type I spinal muscular atrophy or Werdnig-Hoffman disease is rarely described in black populations. We report five such cases diagnosed in a paediatric outpatient clinic in Dakar. We conducted a retrospective study relating to patients examined for hypotonia progressing since birth for whom the electromyogram had made it possible to confirm an involvement of the peripheral nerve without nerve conduction anomaly. Mean age of diagnosis was 12.3 +/- 7.6 months. Respiratory distress was noted for 2 patients. A family background of similar symptomatology was found in 1 case and consanguinity in 2 cases. Only 1 case of death occurred whereas the 4 other patients were lost to follow-up. The diagnosis of spinal muscular atrophy must be considered in the presence of any severe hypotonia in infants.

Child, Preschool↗
PubMed2005

Type I spinal muscular atrophy can mimic sensory-motor axonal neuropathy.

Spinal muscular atrophy is a group of allelic autosomal recessive disorders characterized by progressive motoneuron loss, symmetric weakness, and skeletal muscle atrophy. It is traditionally considered a pure lower motoneuron disorder, for which a current definitive diagnosis is now possible by molecular genetic testing. We report two newborns with a clinical phenotype consistent with that of spinal muscular atrophy type I and nerve conduction studies and electromyography suggesting more extensive sensory involvement than classically described with spinal muscular atrophy. Molecular testing confirmed spinal muscular atrophy in patient 1 but not in patient 2. Thus, in the setting of a suspected congenital axonal neuropathy, molecular testing might be necessary to distinguish spinal muscular atrophy type I from infantile polyneuropathy.

Diagnosis, Differential↗