However, the clinical appearances of scapuloperoneal spinal muscular atrophy and the present disorder make allelism unlikely. In 1994, a second Dutch family with a disorder similar to the present one was described. [wwww.unboundmedicine.com]

The pattern of expression was variable: the father showed a mild muscular involvement, while the son presented at birth skeletal dysplasia and a progressive course. [ncbi.nlm.nih.gov]

The problem arises when an infant presents clinically like SMA but is negative for survival motor neuron gene. A 3-month-old infant presented with paucity of limb movement and weak cry. [content.iospress.com]

Typical Presentation: Progressive muscle weakness, poor weight gain, sleep difficulties, pneumonia, scoliosis, joint contractures. [athenadiagnostics.com]

Acronym SPSMA Synonyms Amyotrophy neurogenic scapuloperoneal New England type Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Anemia

  […] with ringed sideroblasts Severe congenital hypochromic sideroblastic anemia Severe congenital nemaline myopathy Severe congenital neutropenia Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome Severe congenital [orpha.net]

  […] syndrome, Shwachman-Bodian syndrome, Pancreatic Insufficiency and congenital lipomatosis of pancreas,Metaphyseal chondrodysplasia (Shwachman-Diamondtype), SDS Sichelzellenanämie ( 2 Files ) Erkrankung: Sichelzellenanämie ICD 10: D57.1 Synonyme: Sickle Cell Anemia [orphananesthesia.eu]

  […] regressie naar de vroege jeugd Speyertherapie: Therapeuten SPHEROCYTOSE SPHEROCYTOSIS Zie ook: BLOEDCELLEN RODE BLOEDCELLEN ACANTHOCYT ERYTHROCYTEN BLOEDLICHAMEN RODE BLOEDLICHAMEN BLOOD CELLS B-CELL LYMPHOMAS Zie ook: HEREDITARY SPHEROCYTIC HEMOLYTIC ANEMIA [catsclem.nl]

• Muscular Atrophy

  Language: MeSH term: Accepted terms: English: Muscular Atrophy, Spinal - Bulbospinal Neuronopathy - Kennedy Syndrome - Oculopharyngeal Spinal Muscular Atrophy - Progressive Muscular Atrophy - Scapuloperoneal Form of Spinal Muscular Atrophy - Spinal Muscular [hon.ch]

  Motor Neuronopathy, Hereditary Muscular Atrophies, Progressive Muscular Atrophy, Adult Spinal Muscular Atrophy, Myelopathic Muscular Atrophy, Progressive Myelopathic Muscular Atrophy Myelopathic Muscular Atrophy, Progressive Neuronopathies, Bulbospinal [decs.bvs.br]

  — Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. Arch. Neurol. Psychiat. (Chicago) 75:500, 1956. [ Links ] 17. MEADOWS, J.C. & MARSDEN, C.D. — A distal form of chronic spinal muscular atrophy. [scielo.br]

  We previously described a large New England kindred exhibiting an autosomal dominant neurogenic SP syndrome (scapuloperoneal spinal muscular atrophy, SPSMA). [ncbi.nlm.nih.gov]

  Scapuloperoneal spinal muscular atrophy (SPSMA) is a rare autosomal dominant disorder caused by heterozygous mutations in the transient receptor potential vanilloid 4 (TRPV4) gene. [medworm.com]

• Muscle Weakness

  Scapuloperoneal spinal muscular atrophy (SPSMA) is a very rare genetic disorder that causes muscle weakness and a decrease of muscle tissue (atrophy) that gets worse with time (progressive). [diseaseinfosearch.org]

  A 14-year old boy was admitted for signs of heart failure and scapuloperoneal muscle weakness. He fulfilled the clinical, functional and diagnostic criteria for dilated cardiomyopathy. [ncbi.nlm.nih.gov]

  […] characterized by muscle cramping of the limbs and abdomen, weakness in the leg muscles, involuntary muscle contractions, tremors, and a protrusion of the abdomen thought to be related to muscle weakness. [icdlist.com]

  Weakness and atrophy in the lower extremities are usually followed by problems with the pectoral girdle, facial muscles, distal limb, and bulbar muscles. Muscle cramps on exertion often precede the weakness by several years. [encyclopedia.com]

  muscle atrophy Peroneal muscle weakness Scapular muscle atrophy Small hand Talipes equinovarus Abnormality of the musculature ... ... [familydiagnosis.com]

• Small Hand

  hand Talipes equinovarus Abnormality of the musculature ... ... [familydiagnosis.com]

  Clinical hallmarks of SPSMA are muscular atrophy of the shoulders, peroneal and small hand muscles resulting in distal weakness, predominantly of the lower limbs, and pectoral muscle wasting and weakness. [orpha.net]

• Winged Scapula

  Patients present difficulty walking on heels, winged scapulae, and diminished or absent deep tendon reflexes. Other common features reported include vocal cord paralysis, scoliosis, and/or arthrogryposis. [orpha.net]

• Akinesia

  […] price : contact lab Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany TAT : 3-5 weeks price : contact lab Fetal akinesia [genetests.org]

  Fetal akinesia with anterior horn cell loss and congenital malformation in male siblings: Severe X-linked spinal muscular atrophy (XL-SMA) or a new disease entity? Abstract 1743. [ncbi.nlm.nih.gov]

  Chromaffinoma, Chromaffin paraganglioma, Chromaffin tumor, intra-medullary paraganglioma, Chromaffin cell tumor Pena-Shokeir-Syndrom ( 1 Files ) Erkrankung : Pena-Shokeir-Syndrom ICD 10: Q87.8 Synonyme: Pena-Shokeir-Syndrom, Type l (OMIM 208150), Fetal akinesia [orphananesthesia.eu]

  […] dysfunction and 371Acid maltase deficiency 340, Agyria 381 juvenile 304 402 AIDS see Acquired immuno- sporadic 304Acidosis 162 deficiency syndrome Amyotrophy, neuralgic 321,Acoustic meatus, external 100 Akathisia 66 328, 329Acoustic neuroma 258, 259, Akinesia [fliphtml5.com]

• Areflexia

  Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness. [amboss.com]

  Hypotonia and weakness are usually noted in the newborn period and can be associated with congenital joint contractures and areflexia. [ncbi.nlm.nih.gov]

  IgG antibodies directed against GM1, GD1a, GD1bMiller Fisher syndrome (MFS) Diplopia (usually external ophthalmoplegia), ataxia, areflexia. IgG antibodies to GQ1b5 (Hahn, 1998)1 The most common manifestations are listed. [fliphtml5.com]

• Hyporeflexia

  Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness. [amboss.com]

  Atten- receptor tuated muscles, skeletal anomalies2, hyporeflexia Nemaline myopathy AD: 1q22–23/Tropomyosin-3 or areflexia; exercise-induced muscle stiffness; (NEM1) AR3/2q22/Nebulin risk of malignant hyperthermia Nemaline myopathy Neonatal hypotonia; [fliphtml5.com]

Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. [books.google.de]

Twelve potentially clinically meaningful treatment benefit... [medworm.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment - Amyotrophy- neurogenic scapuloperoneal- New England type Not supplied. Resources - Amyotrophy- neurogenic scapuloperoneal- New England type [checkorphan.org]

Prognosis - Amyotrophy- neurogenic scapuloperoneal- New England type Not supplied. Treatment - Amyotrophy- neurogenic scapuloperoneal- New England type Not supplied. Resources - Amyotrophy- neurogenic scapuloperoneal- New England type [checkorphan.org]

Prognosis The prognosis is not so poor, even if the problems of ambulation predispose to falls, to the development of arthrosic problems, which together with the dysmorphic aspects and the distal weakness contribute to get worse the motor problems. [orpha.net]

Prognosis Progressive muscle weakness usually leads to death by age four for persons with SMA I. Muscle weakness progresses at varying rates in SMA II, and many persons survive into adulthood. [encyclopedia.com]

Prognosis The prognosis for these patients is variable and depends on the underlying cause. [childneurologyfoundation.org]

The older the age of onset, the better the prognosis! [amboss.com]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)! [amboss.com]

Etiology unknown. Inheritance is either autosomal dominant or X-linked. It is clinically indistinguishable from Kugelberg-Welander (recessive). First described in 1886 by Brossard. Presented as a nosological entity in 1964 by Kaeser. [whonamedit.com]

Etiology The causative gene of SPSMA is TRPV4 (12q23-q24.1), which encodes for a calcium, nonselective cation channel thought to be involved in the regulation of systemic osmotic pressure and mechanosensitivity. [orpha.net]

Arthrogryposis multiplex congenita is etiologically heterogeneous: underlying etiologies can include central nervous system causes, neurogenic effects, fetal constraint, and intrauterine vascular disruption (e.g., amyoplasia). [ncbi.nlm.nih.gov]

Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

Summary Epidemiology The precise prevalence of Scapuloperoneal spinal muscular atrophy (SPSMA) is not available. To date, more than 30 affected individuals have been described worldwide. Males are more severely affected than females. [orpha.net]

This genomic organization provides a therapeutic pathway to promote SMN2, existing in all patients, to function like the missing SMN1 gene. [10] Epidemiology Frequency United States The spinal muscular atrophies are the second most common autosomal-recessive [emedicine.medscape.com]

[…] voor Kinderen SOCIALE FOBIE SOCIAL PHOBIA Zie ook: FOBIEËN PHOBIAS Zie ook: VERLEGENHEID SHYNESS Sociale Fobie Diagnosis of Social Phobia (Social Anxiety Disorder) A good reference site Social Phobia/Social Anxiety Organization Social Phobia Genetic Epidemiology [catsclem.nl]

Understanding the molecular mechanism of TRPV4-linked axonal degeneration may provide a pathophysiological basis for design of rational therapies for SPSMA and CMT2C, with possible implications in other neurological diseases. [grantome.com]

Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)! [amboss.com]

Pathophysiology In 1995, the spinal muscular atrophy disease-causing gene, termed the survival motor neuron ( SMN ), was discovered. [9] Each individual has 2 SMN genes, SMN1 and SMN2. [emedicine.medscape.com]

An early diagnosis of SPSMA may be crucial in order to prevent the more severe congenital form. [ncbi.nlm.nih.gov]

Symptoms - Amyotrophy- neurogenic scapuloperoneal- New England type Causes - Amyotrophy- neurogenic scapuloperoneal- New England type Prevention - Amyotrophy- neurogenic scapuloperoneal- New England type Not supplied. [checkorphan.org]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.de]

PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA TAT : 3-5 weeks price : $2,140.00 Charcot Marie Tooth - Comprehensive Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention [genetests.org]