No abstract available.
Muscular Atrophy, Spinal* ; Spinal Muscular Atrophies of Childhood*

Consensus ; Humans ; Muscular Atrophy, Spinal/therapy* ; Spinal Muscular Atrophies of Childhood

PURPOSE: The aim of this study was to describe the dynamic changes of the cervical dural sac and the spinal cord during neck flexion in patients suffering from Hirayama's disease and to present the usefulness of flexion MR study for the diagnosis. MATERIALS AND METHODS: Seven consecutive male patients (age ranging 17-43 years, mean age 23.7 years) with the clinical diagnosis of Hirayama's disease and 5 healthy subjects (aged 25-32 years) for controls had done cervical MRI from January 2001 through June 2002. Cervical MRI was done in neutral and neck flexed positions using 1.5 T system (Sonata, Siemens, Germany) and obtained images were reviewed by two radiologists. We compared the cervical MRI findings of 7 patients with those of 5 healthy controls regarding neck flexion induced changes in the lower cervical segments. RESULTS: Neutral positioned cervical sagittal MR images revealed subtle or mild cord atrophy in only 2 patients. On maximal neck flexion, AP diameter of the cresent posterior epidural space was increased and also cord flattening with anterior shifting of posterior wall of the lower cervical dural canal was noted in all 7 patients. In all 7 cases, the level and side of spinal cord changes corresponded to the clinical phenotype. All control subjects showed neither cord flattening nor widening of posterior epidural space on neck flexion. CONCLUSION: In patients with the clinical diagnosis of Hirayama's disease, MRI scans obtained on maximal neck flexion showed characteristically dynamic flattening of lower cervical cord and widening of posterior epidural space. Therefore, a flexion MR study is needed to prove the diagnosis.
Atrophy ; Diagnosis ; Epidural Space ; Humans ; Magnetic Resonance Imaging* ; Male ; Muscular Atrophy ; Muscular Atrophy, Spinal ; Neck ; Phenotype ; Spinal Cord ; Spinal Muscular Atrophies of Childhood* ; Upper Extremity*

PURPOSE: The life expectancy of patients with spinal muscular atrophy (SMA) type I is generally considered to be less than 2 years. Recently, with the introduction of proactive treatments, a longer survival and an improved survival rate have been reported. In this study, we analyzed the natural courses and survival statistics of SMA type I patients and compared the clinical characteristics of the patients based on their survival periods. METHODS: We reviewed the medical records of 14 pediatric patients diagnosed with SMA type I during a 9-year period. We examined the demographic and clinical characteristics of these patients, calculated their survival probabilities, and plotted survival curves as on the censoring date, January 1, 2010. We also compared the characteristics of the patients who died before the age of 24 months (early-death, ED group) and those who survived for 24 months or longer (long-survival, LS group). RESULTS: The mean survival time was 22.8+/-2.0 months. The survival probabilities at 6 months, 12 months, 18 months, 24 months, and 30 months were 92.9%, 92.9%, 76.0%, 76.0%, and 65.1%, respectively. Birth weight was the only factor that showed a statistically significant difference between the ED and LS groups (P=0.048). CONCLUSION: In this study, the survival probabilities at 2 years were far greater than expected. Because of the limited number of patients and information in this study, the contribution of improved supportive care on longer survival could not be clarified; this may be elucidated in larger cohort studies.
Birth Weight ; Cohort Studies ; Humans ; Life Expectancy ; Medical Records ; Muscular Atrophy, Spinal ; Spinal Muscular Atrophies of Childhood ; Survival Analysis ; Survival Rate

OBJECTIVES: To study the natural history of spinal muscular atrophy (SMA) in Chongqing and surrounding areas, China, and to provide a clinical basis for comprehensive management and gene modification therapy for SMA. METHODS: A retrospective analysis was performed on the medical data and survival status of 117 children with SMA. RESULTS: Of the 117 children, 62 (53.0%) had type 1 SMA, 45 (38.5%) had type 2 SMA, and 10 (8.5%) had type 3 SMA, with a median age of onset of 2 months, 10 months, and 15 months, respectively. Compared with the children with type 2 SMA or type 3 SMA, the children with type 1 SMA had significantly shorter time to onset, consultation, and confirmed diagnosis ( CONCLUSIONS There are differences in clinical manifestations and survival rates among children with different types of SMA. The children with type 1 SMA have a low survival rate, and those with type 2 SMA may have non-linear regression of motor ability. Early identification and management of SMA should be performed in clinical practice.
Child ; Homozygote ; Humans ; Infant ; Muscular Atrophy, Spinal/genetics* ; Retrospective Studies ; Sequence Deletion ; Spinal Muscular Atrophies of Childhood/genetics*

Spinal muscular atrophy (SMA) in children leads to progressive muscle weakness, dysphagia, aspiration, and death. The most common and severe form of SMA is designated as type I, also known as Werdnig-Hoffman Disease or Floppy Baby syndrome. We anesthetized an 8 month-old female infant with SMA type I undergoing feeding gastrostomy. We planned to use inhalational anesthesia without muscle relaxants. Anesthesia and surgery were uneventful. We herein report a case of successful peri-operative anesthetic management for SMA type I infant with aspiration pneumonia.
Anesthesia ; Anesthesia, General ; Child ; Deglutition Disorders ; Female ; Gastrostomy ; Humans ; Infant ; Muscle Weakness ; Muscles ; Muscular Atrophy, Spinal ; Neuromuscular Diseases ; Pneumonia, Aspiration ; Spinal Muscular Atrophies of Childhood

OBJECTIVES: To investigate the clinical efficacy and safety of salbutamol in the treatment of children with later-onset spinal muscular atrophy (SMA). METHODS: This study is a prospective single-arm phase Ⅲ clinical study. Pediatric patients with SMA type Ⅱ and Ⅲ who visited Department of Neurology, Children's Hospital, Zhejiang University School of Medicine from December 2020 to June 2022 were enrolled. All patients were evaluated with motor function scales, pulmonary function test and drug safety before study. Patients were treated with salbutamol tablets orally, with an initial dose of 1 mg (tid). If tolerable, the dose was increased to 1.5 mg (tid) in the second week, then increased to 2 mg (tid) from the third week and maintained for 6 months. Patients were followed up at 1, 3 and 6 months of treatment. RESULTS: Twenty-six patients were enrolled, including 10 boys and 16 girls. There were 16 cases of SMA type Ⅱ and 10 cases of type Ⅲ with age at treatment initiation of 5.67 (3.13, 7.02) years and disease duration of 2.54 (1.31, 4.71) years. The Hammersmith Functional Motor Scale-Expanded (HFMSE) scores were increased from 14.0 (6.5, 43.0) before treatment to 26.0 (15.0, 46.5) after treatment (Z=－4.144, P<0.01) in 25 cases. The Revised Upper Limb Module Scale scores were increased from 33.0 (25.5, 36.0) before treatment to 35.0 (31.0, 36.5) after treatment (Z=－2.214, P<0.05) in 9 cases. In 7 ambulant children with SMA type Ⅲ, the six minutes walking distance was increased by 30 (15, 52) m after a 6-month treatment (Z=－2.366, P<0.05). Compared with the baseline pulmonary functions the patients showed a significant increase in forced vital capacity (FVC), forced expiratory volume in one second (FEV₁), and peak expiratory flow (PEF) in 15 cases after treatment (all P<0.05). According to patients and caregivers subjective reporting, there were various degrees of improvement in coughing, sputum production ability and exercise endurance. No serious adverse events were observed during the study. CONCLUSIONS Short-term oral administration of salbutamol may improve motor and pulmonary functions in later-onset SMA children with good safety.
Male ; Female ; Humans ; Child ; Albuterol/therapeutic use* ; Prospective Studies ; Muscular Atrophy, Spinal/drug therapy* ; Spinal Muscular Atrophies of Childhood/drug therapy* ; Treatment Outcome

In the present study, we report muscular atrophy of the right distal upper extremity in a 14-year-old boy. The disease progressed insidiously for about 2 years, and during our first examination, he exhibited weakness and wasting in the right hand, and paresthesia on the C6-8 dermatomal area in the right upper extremity. Electromyography revealed neurogenic changes in atrophic muscles. Conduction velocity of the ulnar nerve of the affected hand was decreased. Magnetic resonance imaging (MRI) of the cervical spine in the neutral position revealed focal spinal cord atrophy and a small area of high signal intensity at C5-6 level. In the flexion-induced cervical spine MRI scan, the spinal cord was noticed to be compressed by the posterior dural sac with a forward shift and flow voids in the epidural space. All these parameters led to the diagnosis of Hirayama disease (HD). This is the first report of HD in Korea by pediatrician, even though it is characterized by juvenile onset.
Adolescent ; Atrophy ; Electromyography ; Epidural Space ; Hand ; Humans ; Korea ; Magnetic Resonance Imaging ; Male ; Muscles ; Muscular Atrophy ; Paresthesia ; Spinal Cord ; Spinal Cord Compression ; Spinal Muscular Atrophies of Childhood ; Spine ; Ulnar Nerve ; Upper Extremity

Hirayama disease, juvenile muscular atrophy of the distal upper limb, is a rare disease predominantly affecting the anterior horn cells of the cervical spinal cord in young men. This cervical myelopathy is associated with neck flexion. It should be suspected in young male patients with a chronic history of weakness and atrophy involving the upper extremities followed by clinical stability in few years. Herein, we report 2 cases of Hirayama disease on emphasis of diagnostic approach and describe the pathognomonic findings at flexion magnetic resonance imaging.
Anterior Horn Cells ; Atrophy ; Cervical Cord ; Humans ; Magnetic Resonance Imaging ; Male ; Motor Neuron Disease* ; Motor Neurons* ; Neck ; Rare Diseases ; Spinal Cord Diseases ; Spinal Muscular Atrophies of Childhood ; Upper Extremity

Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate gene, is known to be deleted in 96% of patients with SMA type I. Presently, PCR and single strand conformation polymorphism (PCR-SSCP) analyses have been made possible for application to both archival slides and paraffin-embedded tissues. Archival materials represent valuable DNA resources for genetic diagnosis. We applied these methods for the identification of SMN gene of SMA type I in archival specimens for the prenatal diagnosis. In this study, we performed the prenatal diagnosis with chorionic villus sampling (CVS) cells on two women who had experienced neonatal death of SMA type I. DNA extraction was done from archival slide and tissue materials and PEP-PCR was performed using CVS cells. In order to identify common deletion region of SMN and neuronal apoptosis-inhibitory protein (NAIP) genes, cold PCR-SSCP and PCR-restriction site assay were carried out. Case 1 had deletions of the exons 7 and 8, and case 2 had exon 7 only on the telomeric SMN gene. Both cases were found to be normal on NAIP gene. These results were the same for both CVS and archival biopsied specimens. In both cases, the fetuses were, therefore, predicted to be at very high risk of being affected and the pregnancy were terminated. These data clearly demonstrate that archival slide and paraffin-embedded tissues can be a valuable source of DNA when the prenatal genetic diagnosis is needed in case any source for genetic analysis is not readily available due to previous death of the fetus or neonate.
Chorionic Villi Sampling ; Diagnosis ; DNA ; Exons ; Female ; Fetus ; Genes, vif ; Humans ; Infant, Newborn ; Motor Neurons ; Muscular Atrophy, Spinal* ; Neuronal Apoptosis-Inhibitory Protein ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis* ; Spinal Muscular Atrophies of Childhood*