Presentation
For example, more than a million copies of the Alu sequence are present in the genome. [wikivisually.com]
[…] motor neuropathy, Jerash type HMNJ Motor neuropathy, distal, Jerash type Neuronopathy, distal hereditary motor, Jerash type Neuropathy, distal hereditary motor, Jerash type Spinal muscular atrophy, Jerash type Keywords Any medical or genetic information present [uniprot.org]
Entire Body System
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Weakness
First, weakness occurs in the lower limbs and within a few years the upper limbs become affected. People affected with this disorder have difficulties in moving their arms and legs, walking, and preforming normal muscle movements. [diseaseinfosearch.org]
Overview Neuropathy, distal hereditary motor, Jerash type: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs without any sensory impairment. [checkorphan.org]
Definition An autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade. There is no sensory involvement. [uniprot.org]
In general, distal hereditary motor neuropathies affect the axons of distal motor neurons and are characterized by progressive weakness and atrophy of muscles of the extremities. [1] It is common for them to be called "spinal forms of Charcot-Marie-Tooth [en.wikipedia.org]
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Weight Loss
Loss: Home Testing: o Home Weight Testing o Home Body Fat Testing (BMI) o Home Body Fat Monitoring o Home Fitness Testing * Diabetes: Related Home Testing: o Home Diabetes Tests o Home Blood Glucose Tests o Home Urine Glucose Tests o Home Urine Ketone [checkorphan.org]
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Movement Disorder
disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis [en.wikipedia.org]
Cardiovascular
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Hypertension
Sleep apnea Obstructive Congenital central hypoventilation syndrome Narcolepsy Cataplexy Kleine–Levin Circadian rhythm sleep disorder Advanced sleep phase disorder Delayed sleep phase disorder Non-24-hour sleep–wake disorder Jet lag CSF Intracranial hypertension [en.wikipedia.org]
Cataract, total congenital * Cataract, zonular * Cataract,posterior polar, 3 * Cataract,posterior polar, 4 * Cataract-glaucoma * Cataracts, ataxia, short stature, and mental retardation * Catastrophic Antiphospholipid Syndrome * Catatrichy * Catecholamine hypertension [medicalgeek.com]
Musculoskeletal
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Muscular Atrophy
7q34–q36 Autosomal dominant Autosomal dominant juvenile distal spinal muscular atrophy Juvenile onset DHMN2A 158590 HSPB8 12q24.23 Autosomal dominant Autosomal dominant distal spinal muscular atrophy Adult onset. [en.wikipedia.org]
Acronym DSMA2 Synonyms Hereditary motor neuropathy, Jerash type HMNJ Motor neuropathy, distal, Jerash type Neuronopathy, distal hereditary motor, Jerash type Neuropathy, distal hereditary motor, Jerash type Spinal muscular atrophy, Jerash type Keywords [uniprot.org]
atrophy dominant * Congenital bilateral aplasia of vas deferens * Congenital bronchobiliary fistula * Congenital cardiovascular malformations * Congenital cardiovascular shunt * Congenital central hypoventilation syndrome * Congenital chloride diarrhea [medicalgeek.com]
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Progressive Muscle Wasting
Overview Neuropathy, distal hereditary motor, Jerash type: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs without any sensory impairment. [checkorphan.org]
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Muscle Weakness
Definition An autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade. There is no sensory involvement. [uniprot.org]
Neurologic
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Seizure
[…] autoimmune Multiple sclerosis Neuromyelitis optica Schilder's disease hereditary Adrenoleukodystrophy Alexander Canavan Krabbe ML PMD VWM MFC CAMFAK syndrome Central pontine myelinolysis Marchiafava–Bignami disease Alpers' disease Episodic/ paroxysmal Seizure [en.wikipedia.org]
* Dandy Walker facial hemangioma * Dandy Walker malformation postaxial polydactyly * Dandy Walker syndrome * Dandy Walker syndrome recessive form * Dandy Walker variant * Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures [medicalgeek.com]
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Hypesthesia
Fuchs' endothelial, 1 * Corneal dystrophy, Fuchs' endothelial, 2 * Corneal dystrophy, gelatinous drop-like * Corneal dystrophy, juvenile epithelial of Meesmann * Corneal dystrophy, Thiel-Behnke type * Corneal endothelial dystrophy type 2 * Corneal hypesthesia [medicalgeek.com]
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Tremor
Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy [en.wikipedia.org]
Treatment
Treatment varies based on a case-by-case basis. If you or a family member has been diagnosed with Jerash type distal hereditary motor neuropathy, talk with your doctor about the most current treatment options. [diseaseinfosearch.org]
Treatment - Neuropathy- distal hereditary motor- Jerash type Not supplied. Resources - Neuropathy- distal hereditary motor- Jerash type Not supplied. [checkorphan.org]
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]
Tendon reflexes will also appear normal. [9] Clinical, electrophysiological, and pathological testing will show a lack of damage to sensory neurons, differentiating this disease from CMT. [10] Treatment [ edit ] Physical therapy is the predominant treatment [en.wikipedia.org]
Prognosis
Neuropathy- distal hereditary motor- Jerash type The \'prognosis\' of Neuropathy, distal hereditary motor, Jerash type usually refers to the likely outcome of Neuropathy, distal hereditary motor, Jerash type. [checkorphan.org]
Pathophysiology
See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Inherited peripheral neuropathies are a relatively [mayomedicallaboratories.com]
Prevention
Prevention - Neuropathy- distal hereditary motor- Jerash type Not supplied. [checkorphan.org]