Symptoma

Distal Spinal Muscular Atrophy Type 5

DSMA5

Respiratory onset can present with: Dyspnoea and orthopnoea. [patient.info]

Some people present with generalized weakness in infancy while others present with adult-onset weakness that may include proximal muscles and sensory loss. Many people’s first symptom is cramping in the legs. [cmtausa.org]

Power, bulk, gait, and coordination were intact, but distal hyporeflexia was present. Tinel signs were present at the wrists and elbows. No nerves could be palpated. Hammertoes and high arches were present. [emedicine.medscape.com]

Case Presentation A 20-year-old male with diabetes mellitus type 1 and a known personal history of CMTX1 presented to our emergency department with acute-onset dysarthria, tongue deviation, left facial weakness, and left hand numbness developing over [karger.com]

Chromosomal linkage is present for many others ( Table 88-5 ). [clinicalgate.com]

  • Burning Pain

    See: and Maybe there is some simple ideas that may help, such as a topical cream that the doctor can order to help with burning pains at night (Dr. [neuropathysupportnetwork.org]

    These fibers convey aching, burning pain and temperature sensation and also include the sympathetic, postganglionic motor nerves. Their speed is approximately 1 meter/second. [dartmouth.edu]

  • Night Blindness

    blindness Microcytic anemia with liver iron overload Oguchi disease 22q11.2 deletion syndrome 2q37 microdeletion syndrome Acrokeratosis verruciformis of Hopf Acute myeloid leukemia with t(8;21)(q22;q22) translocation Adams-Oliver syndrome Aicardi-Goutières [csbg.cnb.csic.es]

    blindness X-linked dystonia-parkinsonism/Lubag Schindler disease type 1 FG syndrome 2 Absence of fingerprints congenital milia 8p23.1 duplication syndrome Biemond syndrome 2 Sjogren-Larsson syndrome Craniofacial dyssynostosis Pseudoxanthoma elasticum [checkrare.com]

  • Psychomotor Retardation

    retardation Pillay syndrome Glucose-galactose malabsorption Spastic ataxia Charlevoix-Saguenay type Autosomal dominant palmoplantar keratoderma and congenital alopecia McKusick Kaufman syndrome Branchial arch syndrome X-linked Testotoxicosis Frasier [checkrare.com]

    retardation TANC1 Ptosis, congenital ZFHX4 Pyridoxine-dependent epilepsy ALDH7A1 Pyruvate carboxylase deficiency PC Renpenning syndrome PQBP1 Rett syndrome preserved speech variant MECP2 Rigid spine muscular dystrophy SELENON Rippling muscle disease [centogene.com]

  • Urinary Incontinence

    incontinence) in some cases uncontrollable bowel (bowel incontinence) Management Medical Management Babies born or children who have developed with hydrocephalus usually require swift treatment to reduce the pressure on their brain. [physio-pedia.com]

  • Onset in Infancy or Childhood

    […] in infancy or childhood, difficulty in running, twisting of ankles, pes cavus (planus at onset) and hammertoes, progressive peroneal atrophy with steppage gait, foot drop, mild sensory ataxia, weakness/wasting of hand intrinsic muscles, stocking-glove [neupsykey.com]

  • Spastic Paralysis

    paralysis Agammaglobulinemia, microcephaly, and severe dermatitis Renal hypouricemia Microcephaly sparse hair mental retardation seizures Dentinogenesis imperfecta type 2 Early-onset, autosomal dominant Alzheimer disease Microduplication Xp11.22-p11.23 [checkrare.com]

    paralysis, infantile onset ascending ALS2 Spastic paraplegia type 74, autosomal recessive IBA57 Spastic paraplegia type 74, autosomal recessive IBA57 SPG1 L1CAM SPG2 PLP1 SPG3A ATL1 SPG4 SPAST SPG5A CYP7B1 SPG6 NIPA1 SPG7 SPG7 SPG8 KIAA0196 SPG10 KIF5A [centogene.com]

  • Febrile Seizures

    seizures plus type 2 SCN1A Generalized epilepsy with febrile seizures plus type 3 GABRG2 Generalized epilepsy with febrile seizures plus type 7 SCN9A Gerstmann-Straussler disease PRNP Giant axonal neuropathy type 1 GAN Gillespie syndrome ITPR1 GLUT1 [centogene.com]

    seizures, and sinoatrial block Miyoshi myopathy MYH7-related scapuloperoneal myopathy Multiple system atrophy Hirschsprung's disease Pseudoneonatal adrenoleukodystrophy Bangstad syndrome Spondylocarpotarsal synostosis syndrome Eosinophilic fasciitis [checkrare.com]

  • Abnormal Gait

    Early Onset: Severe forms may have infant hypotonia with delayed motor milestones, toe walking and even arthrogryposis; most present before age 20, with clumsiness and abnormal gait. [now.aapmr.org]

  • Numbness of the Hand

    A clinical vignette is as follows: Two patients, father and son, presented with slowly progressive weakness since childhood, affecting the arms more than the legs, and numbness in the hands and feet. [emedicine.medscape.com]

Evaluation and treatment of suspected radiculopathy. Figure 3. Evaluation and treatment of suspected radiculopathy. Figure 4. Evaluation and treatment of suspected polyneuropathy (eg, multifocal mononeuropathy). Figure 4. [jaoa.org]

Medical treatment entails use of prokinetic and antiemetic therapies. [gi.org]

SURGICAL TREATMENT Surgical treatment of Charcot arthropathy of the foot and ankle is based primarily on expert opinion. [care.diabetesjournals.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic inflammatory demyelinating polyneuropathy) are important to identify, as effective treatments are available. [em-consulte.com]

Since cumulative fixed deficits may ensue after repeated attacks, the long-term prognosis depends on successful prevention of attacks. The prognosis of AIP is good even in severe, acute attacks. [neupsykey.com]

This cautious approach is understandable, given the prognosis of the illness and the devastation that being given the diagnosis may cause to a person's life. [patient.info]

Prognosis If patients with HSN I receive appropriate counselling and treatment, the prognosis is good. Early treatment of foot infections may avoid serious complications. Also the complications are manageable, allowing an acceptable quality of life. [ojrd.biomedcentral.com]

The prognosis of the CNS phenotype of CMTX1 is usually spontaneous resolution without permanent deficit; therefore, promptly identifying the disease is vital to avoid unnecessary investigation and potentially harmful therapeutic intervention. [karger.com]

These patients with autonomic dysfunction may have slower resolution of their symptoms that may take several years and the prognosis is worse than in postviral gastroparesis without autonomic disorders ( 20, 21 ). [gi.org]

The Charcot foot has been documented to occur as a consequence of various peripheral neuropathies; however, diabetic neuropathy has become the most common etiology. [care.diabetesjournals.org]

Postsurgical gastroparesis (PSG), often with vagotomy or vagus nerve injury, represents the third most common etiology of gastroparesis. [gi.org]

Several demyelinating etiologies can produce a “Dejerine-Sottas” phenotype with early onset, palpable nerves, and marked onion-bulb formation. [now.aapmr.org]

However, most of these conditions present in a rather stereotyped manner, and clarification of the precise etiology may require very elaborate procedures. [dartmouth.edu]

Although dHMN shows similar involvement of posterior compartment muscles, it also severely affects anterior compartment muscles, especially the vastus muscle group, which suggests that the etiologies and pathophysiologies of CMT1A and dHMN differ. [nature.com]

Relevant External Links for DNAJB2 Genetic Association Database (GAD) DNAJB2 Human Genome Epidemiology (HuGE) Navigator DNAJB2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: DNAJB2 No data available for Genatlas for DNAJB2 Gene The chaperone [genecards.org]

Epidemiology Hereditary sensory neuropathy type I (HSN I) constitutes a clinically and genetically heterogenous group of disorders of low prevalence. No detailed epidemiological data are currently available. [ojrd.biomedcentral.com]

There may be several causes for such oxidative damage to motor neurons and the disease may just represent an end-stage phenotypic expression of these abnormalities. [ 4 ] Epidemiology MND is relatively uncommon with an annual incidence of about 2 cases [patient.info]

Epidemiology including risk factors and primary prevention HMSN is the most common inherited neuromuscular disease with overall prevalence of approximately 1/2500 and incidence 15/100,000 in the general population. [now.aapmr.org]

The epidemiology and impact of gastroparesis are reviewed elsewhere ( 2 ). [gi.org]

Inflammation plays a key role in the pathophysiology of the Charcot foot and is the earliest clinical finding. [care.diabetesjournals.org]

Attacks are five times more frequent in women and manifest usually in the third and fourth decades. 35.1.4.3 Pathophysiology Predominantly proximal motor axonal damage with Wallerian degeneration and secondary demyelination. [neupsykey.com]

Pathophysiology This is a degenerative condition that affects motor neurons, namely the anterior horn cells of the spinal cord and the motor cranial nuclei. [patient.info]

Importantly, CMT1A has one of the highest de novo mutation rates, similar to neurofibromatosis type 1, as discussed in Pathophysiology. Consequently, cases occur in which a family history is truly absent. [emedicine.medscape.com]

Pathophysiology and treatment of functional dyspepsia. Gastroenterology 2004;127:1239–1255. 4. Sarnelli G, Caenepeel P, Geypens B et al. Symptoms associated with impaired gastric emptying of solids and liquids in functional dyspepsia. [gi.org]

Prevention is based by awareness and avoidance of precipitating drugs and situations. [neupsykey.com]

MEDICAL TREATMENT The medical treatment of CN is aimed at offloading the foot, treating bone disease, and preventing further foot fractures ( 34 ). [care.diabetesjournals.org]

Primary prevention is genetic counseling. [now.aapmr.org]

This aims to prevent infection and further damage to the exposed spinal cord and spinal nerves. [physio-pedia.com]

Genetic counselling is an important tool for preventing new cases if this is wished by at-risk family members. [ojrd.biomedcentral.com]