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PubMed1999

Motor neuron disease with predominantly upper extremity involvement: a clinicopathological study.

We report two autopsy cases of motor neuron disease (MND) patients with an unusual type of muscular atrophy predominantly affecting the shoulder girdle and the upper extremities with proximal dominance. Both patients are considered to be clinically categorized into the El Escorial suspected form of amyotrophic lateral sclerosis (ALS). At autopsy, they showed marked loss of spinal anterior horn cells accompanied by astrogliosis positively immunostained with anti-glial fibrillary acidic protein antibody at the cervical level. At the lumbosacral level, anterior horn neurons were relatively well preserved and Bunina bodies, ubiquitin-positive skein-like inclusions and Lewy body-like inclusions were observed in the remaining neurons. In one patient, brain stem motor neurons (nerves V, VII, XII) and motor cortex, including Betz cells, were also affected and the corticospinal tracts were degenerated at the level of the thoracic and lumbar spinal cord. Pathological findings of this patient are consistent with those of ALS. In the other patient, the motor cortex, brain stem motor nuclei and the corticospinal tracts were well preserved, which is pathologically compatible with progressive spinal muscular atrophy. These patients with such a peculiar pattern of progressive muscular atrophy should be placed in a subgroup of ALS.

Aged↗
PubMed1990

Clinical and electromyographic studies of postpoliomyelitis muscular atrophy.

Eleven patients with progressive weakness following polio (postpoliomyelitis muscular atrophy syndrome) were compared electromyographically with nine patients who had stable strength following polio. Abnormalities included (1) abnormal motor unit characteristics in many muscles indicating widespread loss of motor neurons and reinnervation in muscles, including many not clinically affected by the polio; (2) prevalent spontaneous denervation potentials; and (3) abnormal single-fiber electromyographic jitter. These electromyographic abnormalities were similar in progressive and stable postpoliomyelitis patients even when muscles were separated by strength, stability, age and duration of the postpoliomyelitis state. Postpoliomyelitis muscular atrophy appears to be the clinically apparent end of the spectrum of abnormalities existing in all postpoliomyelitis patients.

Action Potentials↗
PubMed2026

Characteristics of early-onset, rapidly progressive scoliosis in spinal muscular atrophy type I treated with disease-modifying therapy -a multicenter retrospective study conducted in Japan.

In the era of disease-modifying therapy (DMT), almost all patients with spinal muscular atrophy (SMA) type I treated after onset, but before 6 months of age, develop early-onset, rapidly progressive scoliosis by 2 years of age, despite improvements in their motor function. Seven symptomatic patients with SMA type I who were treated before the age of 6 months were included in this retrospective observational study. Scoliosis had developed in all patients by 27 months of age. Among them, the patients who could stand with support or independently (standing patients; n = 3) tended to present with more progressive scoliosis than the sitters (n = 4). All standing patients demonstrated thoracic hyperkyphosis before or at the time of their scoliosis diagnosis. Despite receiving DMT, these patients continued to show residual key manifestations of SMA type I. Chronic difficulty maintaining posture due to trunk muscle weakness in the lying, sitting, or standing position was considered to be the main contributor to the development and progression of the scoliosis. The development and progression of such scoliosis, which begins in infancy, may be related to inappropriate postural management, which is not currently recognized as such by clinicians, caregivers, or guardians. In this population, it is important to closely monitor patients for such scoliosis from soon after the diagnosis of SMA. As this type of scoliosis progresses rapidly during the early developmental stage, when surgery is not possible, it is necessary to establish a proactive non-surgical management strategy for it.

Humans↗
PubMed1976

Familial progressive bulbar and spinal muscular atrophy. Juvenile onset and late morbidity with ragged-red fibers.

Six members of a family had a neurologic disease with autosomal dominant transmission and adolescent onset of progressive wasting of predominantly distal axial muscles and muscles innervated by cranial nerves V, VII, X, and XII, leading to severe morbidity in adulthood. Muscle biopsy of the propositus revealed "ragged-red" fibers, while electromyography and autopsy material were consisted with a neurogenic disease. The case seemed unique to any clinicogenetic nosology, because it was associated with a cardiac conduction defect, a mitochondrial abnormality in skeletal muscle, and a course, distribution, and degree of weakness that included features of both chronic spinal muscular atrophy and amyotrophic lateral sclerosis.

Adult↗
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↗
PubMed2002

Severe spinal muscular atrophy variant associated with congenital bone fractures.

Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene (SMNI) on chromosome 5q11.2-13.3. However, a number of chromosome 5q-negative patients with additional clinical features (respiratory distress, cerebellar hypoplasia) have been designated in the literature as infantile spinal muscular atrophy plus forms. In addition, the combination of severe spinal muscular atrophy and neurogenic arthrogryposis has been described. We present clinical, molecular, and autopsy findings of a newborn boy presenting with generalized muscular atrophy in combination with congenital bone fractures and extremely thin ribs but without contractures.

Bone and Bones↗
PubMed1988

Functional recovery. A major risk factor for the development of postpoliomyelitis muscular atrophy.

A retrospective study was undertaken to identify potential risk factors for the development of progressive postpoliomyelitis muscular atrophy (PPMA). Patients with PPMA (n = 57) were compared with patients with a history of poliomyelitis but without a history of progressive weakness (n = 49). Patients who later developed PPMA had histories of more widespread acute paralysis, but relatively greater functional recovery. They were less disabled, and reported higher recent activity levels. Seventy-nine percent of the total variance between the PPMA and control groups could be accounted for by recovery alone (ie, severity minus disability). Functional recovery is generally attributed to reinnervation of sarcomeres by collateral sprouting from surviving lower motor neurons. Since degree of recovery predicts the risk of developing PPMA, our findings suggest that enlarged motor units may carry an increased susceptibility for dysfunction and/or degeneration.

Adult↗
PubMedDate not supplied

Progressive juvenile segmental spinal muscular atrophy.

Juvenile segmental spinal muscular atrophy (JSSMA) typically involves the distal upper extremities and follows a benign course over 2-4 years then stabilizes. We report 2 males who presented in their teens with insidious distal upper extremity atrophy and weakness as in typical JSSMA but who then progressed to involvement of the lower extremities and hyperreflexia. There was no sensory loss. Electromyography and muscle biopsy demonstrated features consistent with localized anterior horn cell dysfunction. These patients are noteworthy because they demonstrate that some patients with JSSMA also may have involvement of the lower limbs several years after initial presentation. Progressive JSSMA may be categorized in the clinical spectrum between the spinal muscular atrophies and amyotrophic lateral sclerosis.

Adolescent↗
PubMed1963

ABNORMAL MYOGLOBIN ULTRAVIOLET SPECTRUM IN DUCHENNE TYPE OF PROGRESSIVE MUSCULAR DYSTROPHY.

Met-myoglobin isolated from gluteal muscle of cases with Duchenne type of progressive muscular dystrophy showed an abnormal ultraviolet spectrum. The maximum of the spectrum at pH 7.0 was at 275 mmicro, in contrast to that at 281 m/ A in normal met-myoglobin. Such an abnormality was not found in the limb-girdle type of dystrophy and in progressive spinal muscular atrophy. The results indicate the presence of an abnormal myoglobin in the Duchenne type of progressive muscular dystrophy.

Hemoglobins↗