Myopathy, and Tremor

Diseases related with Myopathy and Tremor

In the following list you will find some of the most common rare diseases related to Myopathy and Tremor that can help you solving undiagnosed cases.


Top matches:

Low match SPHEROID BODY MYOPATHY


Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.

Related symptoms:

  • Muscle weakness
  • Tremor
  • Dysphagia
  • Myopathy
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPHEROID BODY MYOPATHY

Low match LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET


The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Low match AMISH NEMALINE MYOPATHY


Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community.

AMISH NEMALINE MYOPATHY Is also known as amish nemaline myopathy|anm|nemaline myopathy, amish type

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AMISH NEMALINE MYOPATHY

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Other less relevant matches:

Low match MYOPATHY, DISTAL, 1; MPD1


MYOPATHY, DISTAL, 1; MPD1 Is also known as myopathy, late distal hereditary|laing distal myopathy|myopathy, distal, early-onset, autosomal dominant

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • High palate
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, DISTAL, 1; MPD1

Low match PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME


Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.

PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME Is also known as peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME

Low match SPORADIC CREUTZFELDT-JAKOB DISEASE


Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Low match PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS


Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

Low match ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION


Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION

Low match FRONTOTEMPORAL DEMENTIA; FTD


Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS ) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of TauopathiesTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.Other neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM ) and progressive supranuclear palsy (PSP ),Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' (Lee et al., 2001).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar DegenerationMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM ), caused by mutation in the GRN gene (OMIM ) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM ), caused by mutation in the CHMP2B gene (OMIM ); inclusion body myopathy with Paget disease and FTD (IBMPFD ), caused by mutation in the VCP gene (OMIM ) on chromosome 9p13; ALS6 (OMIM ), caused by mutation in the FUS gene (OMIM ) on 16p11; ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ) on 1p36; and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ) on 9p.In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1 ) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3 ).

FRONTOTEMPORAL DEMENTIA; FTD Is also known as mstd|frontotemporal dementia with parkinsonism|ftld with tau inclusions|ddpac|ftdp17|wilhelmsen-lynch disease|pallidopontonigral degeneration|frontotemporal lobar degeneration with tau inclusions|frontotemporal lobe dementia|disinhibition-dementia-parkins

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Tremor
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA; FTD

Low match LEBER HEREDITARY OPTIC NEUROPATHY


Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.

LEBER HEREDITARY OPTIC NEUROPATHY Is also known as leber optic atrophy|lhon|leber hereditary optic neuropathy

Related symptoms:

  • Ataxia
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER HEREDITARY OPTIC NEUROPATHY

Top 5 symptoms//phenotypes associated to Myopathy and Tremor

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Confusion Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Tremor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Mildly elevated creatine phosphokinase Rigidity Dystonia Dementia Skeletal muscle atrophy Behavioral abnormality Distal muscle weakness Dysphagia Proximal muscle weakness

Rare Symptoms - Less than 30% cases


Cardiomyopathy Postural tremor Irritability Memory impairment Motor delay Hearing impairment Headache Abnormal pyramidal sign Supranuclear gaze palsy Abnormality of extrapyramidal motor function Gliosis Mental deterioration Blurred vision Aphasia Type 1 muscle fiber predominance Personality changes Apathy Language impairment Neurodegeneration Frontotemporal dementia Amyotrophic lateral sclerosis Difficulty walking Blindness Proximal amyotrophy Centrally nucleated skeletal muscle fibers Gait disturbance Areflexia Hyporeflexia Depressivity Pes cavus Hyperreflexia Visual impairment Neuronal loss in central nervous system Calf muscle hypertrophy Myoclonus Gait ataxia Optic atrophy Progressive muscle weakness Fasciculations Ragged-red muscle fibers Reduced visual acuity Progressive extrapyramidal movement disorder Stiff neck Primitive reflex Disinhibition Alcoholism Degeneration of anterior horn cells Ventriculomegaly Upper motor neuron dysfunction Brain atrophy Dilatation Cerebral cortical atrophy Dysarthria Aggressive behavior Abnormality of eye movement Poor speech Central core regions in muscle fibers Postural instability Parkinsonism Urinary incontinence Senile plaques Bradykinesia Apraxia Mutism Progressive extrapyramidal muscular rigidity Alzheimer disease Agitation Dysphasia Polyphagia Neurofibrillary tangles Lewy bodies Schizophrenia Anomia Inappropriate behavior Optic neuritis Abnormality of visual evoked potentials Papilledema Increased reactive oxygen species production Dyschromatopsia Osteosarcoma Wolff-Parkinson-White syndrome Leber optic atrophy Neuritis Retinal vascular tortuosity Abnormality of the optic disc Vascular tortuosity Ventricular preexcitation Optic neuropathy Slow decrease in visual acuity Pseudopapilledema Giant somatosensory evoked potentials Retinal telangiectasia Mitochondrial respiratory chain defects Plethora Vitritis Centrocecal scotoma Marcus Gunn pupil Central retinal vessel vascular tortuosity Abnormality of head blood vessel Central scotoma Scotoma Perseveration Arrhythmia Inappropriate laughter Hyperorality Frontal lobe dementia Lack of insight Semantic dementia Parasomnia Prosopagnosia Inappropriate sexual behavior Abnormal posturing Socially inappropriate behavior Visual loss Abnormality of the nervous system Constriction of peripheral visual field Abnormality of movement Polyneuropathy Migraine Progressive visual loss Optic disc pallor Telangiectasia Amblyopia Vasculitis Incoordination Atrioventricular block Abnormal electroretinogram Abnormality of mitochondrial metabolism Abnormal basal ganglia MRI signal intensity Muscle fibrillation Orofacial dyskinesia Shoulder flexion contracture Hypocalcemia Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Delayed gross motor development Hip contracture Nemaline bodies Abnormality of the rib cage Decreased hip abduction Scoliosis Neonatal hypotonia High palate Myalgia Facial palsy Dilated cardiomyopathy Rimmed vacuoles Neck muscle weakness EMG: neuropathic changes Abnormality of the mitochondrion Pectus carinatum Hypoglycemia Weakness of long finger extensor muscles Pes planus Abnormality of metabolism/homeostasis Waddling gait Broad-based gait Nasal speech Absent Achilles reflex Myofibrillar myopathy Neck flexor weakness Babinski sign Distal sensory impairment Respiratory insufficiency Muscle cramps Sensory impairment Intention tremor Spinal muscular atrophy Hammertoe Mitochondrial myopathy Bulbar signs Intellectual disability Flexion contracture Left atrial enlargement Amyotrophy of ankle musculature Insulin-resistant diabetes mellitus Ptosis Visual hallucinations Dysesthesia Normal pressure hydrocephalus Loss of facial expression Extrapyramidal muscular rigidity Hirano bodies Global developmental delay Microcephaly Ophthalmoplegia Increased CSF protein Peripheral axonal neuropathy Dyskinesia Chorea Specific learning disability Involuntary movements Stereotypy Increased variability in muscle fiber diameter Resting tremor Difficulty running Delusions Visual field defect Toe extensor amyotrophy Hydrocephalus Sensorineural hearing impairment Abnormality of the foot Distal amyotrophy Hoarse voice Progressive peripheral neuropathy Vocal cord paresis Cataract Spasticity Recurrent infections Truncal ataxia Encephalopathy Anxiety Paralysis Unsteady gait Abnormal cerebellum morphology Hemiparesis Choreoathetosis Hallucinations Cerebral visual impairment Reduced OCT-measured macular thickness



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Babinski sign, related diseases and genetic alterations Dysarthria and Tetraparesis, related diseases and genetic alterations Fever and Bifid uvula, related diseases and genetic alterations

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