Myopathy, and Confusion

Diseases related with Myopathy and Confusion

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

Top matches:

SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM Is also known as scapuloperoneal myopathy, fhl1-related

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Myopathy
  • Arrhythmia
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM

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

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

Other less relevant matches:

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

MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis (OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.

METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM Is also known as sulfatide lipidosis|arsa deficiency|mld, late infantile form|arylsulfatase a deficiency|cerebroside sulfatase deficiency|metachromatic leukoencephalopathy|arylsulfatase a deficiency, late infantile form|cerebral sclerosis, diffuse, metachromatic form

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM

Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Top 5 symptoms//phenotypes associated to Myopathy and Confusion

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Mental deterioration Common - Between 50% and 80% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
Rigidity Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dysarthria Elevated serum creatine phosphokinase Personality changes Dementia Tremor Muscle weakness Ataxia Depressivity Gait ataxia Neurodegeneration Memory impairment Hallucinations Seizures Apathy Dysphagia Dystonia Cognitive impairment Hyperreflexia Hyporeflexia Lower limb muscle weakness Parkinsonism Blindness Supranuclear gaze palsy Pain Proximal muscle weakness Aphasia Intellectual disability Dilated cardiomyopathy Generalized hypotonia Skeletal muscle atrophy Muscular hypotonia Cardiomyopathy Neuronal loss in central nervous system Gliosis Unsteady gait Brain atrophy Emotional lability Congestive heart failure Limb muscle weakness Encephalopathy Spasticity Gait disturbance Reduced visual acuity Anxiety Neurofibrillary tangles Irritability Clumsiness Myoclonus

Rare Symptoms - Less than 30% cases

Lewy bodies Spastic tetraplegia Coma Perseveration Involuntary movements Alzheimer disease Paresthesia Areflexia Tetraplegia Visual loss Babinski sign Progressive muscle weakness Fatigue Diabetes mellitus Difficulty walking Myalgia Abnormal social behavior Abnormality of visual evoked potentials Sensory neuropathy Schizophrenia Optic atrophy Chorea Abnormality of the cerebral white matter Optic disc pallor Polyneuropathy Abnormality of movement Abnormality of the nervous system Hearing impairment Postural tremor Poor speech Mutism Cerebral cortical atrophy Hepatomegaly Truncal ataxia Language impairment Blurred vision Increased CSF protein Delusions Abnormal pyramidal sign Dysesthesia Paralysis Headache Visual impairment Cataract Elevated hepatic transaminase Insomnia Muscular dystrophy Bradykinesia Aggressive behavior Apraxia Abnormality of extrapyramidal motor function Feeding difficulties in infancy Abnormality of eye movement Left ventricular hypertrophy Urinary incontinence Generalized-onset seizure Sensory axonal neuropathy Ventricular fibrillation Atrial fibrillation Obsessive-compulsive behavior Sleep apnea Ventricular arrhythmia Sensorimotor neuropathy Bradycardia Easy fatigability Cardiac arrest Delayed gross motor development Dyskinesia Hyperammonemia Decreased muscle mass Ketonuria Hemolytic anemia Skeletal myopathy Generalized tonic-clonic seizures with focal onset Acute encephalopathy Reye syndrome-like episodes Impaired gluconeogenesis Reduced muscle carnitine level Rhabdomyolysis Irregular respiration Decreased carnitine level in liver Short stature Endocardial fibroelastosis Anemia Neck muscle weakness Hypertonia Splenomegaly Decreased plasma carnitine Cerebral atrophy Hypoketotic hypoglycemia Recurrent hypoglycemia Hyperhidrosis Excessive daytime somnolence Fasting hypoglycemia Dyspnea Hepatosplenomegaly Bowel incontinence Flexion contracture Impaired vibration sensation in the lower limbs Gallbladder dysfunction Sudden cardiac death Tachycardia Infertility Distal muscle weakness Hypogonadism Hypertension Ptosis Abnormality of proteoglycan metabolism Palpitations Punctate periventricular T2 hyperintense foci Decerebrate rigidity EMG: chronic denervation signs Cholecystitis Progressive peripheral neuropathy Vegetative state Genu recurvatum Decreased antibody level in blood Spontaneous abortion Progressive gait ataxia IgM deficiency Insulin insensitivity Diffuse leukoencephalopathy Frontal balding Type 2 muscle fiber atrophy Hypersomnia Arteriosclerosis Neck flexor weakness Elevated circulating follicle stimulating hormone level Hypercholesterolemia Male hypogonadism Oligospermia IgG deficiency Increased variability in muscle fiber diameter Epiphora Myotonia Leukoencephalopathy EMG: neuropathic changes Loss of speech Impaired pain sensation Orofacial dyskinesia Abnormal lactate dehydrogenase activity Impaired temperature sensation Generalized limb muscle atrophy Personality disorder Increased muscle fatiguability Hyporeflexia of lower limbs Excessive salivation Tics Abnormal corpus striatum morphology Acanthocytosis Supraventricular tachycardia Motor axonal neuropathy Left bundle branch block Ventricular extrasystoles Bipolar affective disorder Restlessness Caudate atrophy Recurrent singultus Onion bulb formation Cardiomegaly Bulbar palsy Toe walking Decreased nerve conduction velocity Shock Leukodystrophy Frequent falls Aganglionic megacolon Bilateral sensorineural hearing impairment Blood group antigen abnormality Peripheral demyelination Abdominal distention Pallor Developmental regression Abnormality of the astrocytes Hyporeflexia of upper limbs Abnormal facial expression Ventricular hypertrophy Decreased activity of mitochondrial complex IV Hepatic steatosis Anomia Degeneration of anterior horn cells Primitive reflex Alcoholism Stiff neck Inappropriate behavior Inappropriate laughter Hyperorality Frontal lobe dementia Lack of insight Semantic dementia Parasomnia Prosopagnosia Inappropriate sexual behavior Socially inappropriate behavior Upper motor neuron dysfunction Migraine Progressive visual loss Telangiectasia Amblyopia Vasculitis Incoordination Atrioventricular block Abnormal electroretinogram Abnormality of mitochondrial metabolism Constriction of peripheral visual field Scotoma Optic neuropathy Central scotoma Disinhibition Senile plaques Increased reactive oxygen species production Visual field defect Waddling gait Foot dorsiflexor weakness Scapular winging Steppage gait Myofibrillar myopathy Scapuloperoneal amyotrophy Scapuloperoneal myopathy Hydrocephalus Recurrent infections Abnormal cerebellum morphology Hemiparesis Choreoathetosis Cerebral visual impairment Muscle fibrillation Frontotemporal dementia Visual hallucinations Normal pressure hydrocephalus Loss of facial expression Extrapyramidal muscular rigidity Hirano bodies Ventriculomegaly Dilatation Postural instability Fasciculations Amyotrophic lateral sclerosis Agitation Dysphasia Polyphagia Papilledema Dyschromatopsia Lethargy Akinesia Cerebellar atrophy Diarrhea Weight loss Abnormality of the eye Dysmetria Progressive cerebellar ataxia Hip dysplasia Psychosis Chronic diarrhea Limb ataxia Muscle stiffness Hyperkinesis Slurred speech Athetosis Weakness of orbicularis oculi muscle Global brain atrophy Impaired smooth pursuit Hypomimic face Cerebral amyloid angiopathy Failure to thrive Feeding difficulties Fever Vomiting Recurrent respiratory infections Abdominal pain Hypoglycemia Hypertrophic cardiomyopathy Respiratory tract infection Nystagmus Peripheral arterial stenosis Osteosarcoma Plethora Wolff-Parkinson-White syndrome Leber optic atrophy Neuritis Retinal vascular tortuosity Abnormality of the optic disc Vascular tortuosity Optic neuritis Ventricular preexcitation Slow decrease in visual acuity Pseudopapilledema Giant somatosensory evoked potentials Retinal telangiectasia Mitochondrial respiratory chain defects Vitritis Proximal amyotrophy Centrocecal scotoma Marcus Gunn pupil Central retinal vessel vascular tortuosity Abnormality of head blood vessel Reduced OCT-measured macular thickness Motor delay Facial palsy Type II diabetes mellitus Type I diabetes mellitus Exercise intolerance Ragged-red muscle fibers EMG: myopathic abnormalities Mitochondrial myopathy Iridescent posterior subcapsular cataract


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