Skeletal muscle atrophy, and Bipolar affective disorder

Diseases related with Skeletal muscle atrophy and Bipolar affective disorder

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Bipolar affective disorder that can help you solving undiagnosed cases.


Top matches:

Medium match FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE


Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.

FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE Is also known as frontotemporal dementia and/or amyotrophic lateral sclerosis|frontotemporal dementia with amyotrophic lateral sclerosis|ftd-mnd|ftdmnd|ftd-als|amyotrophic lateral sclerosis and/or frontotemporal dementia|alsftd|frontotemporal dementia and/or motor neuron

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE

Medium match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


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

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

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Medium match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Medium match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Low match EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA


Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.

EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA Is also known as eotd|dystonia musculorum deformans 1|early-onset primary dystonia|dyt1|dystonia musculorum deformans|idiopathic torsion dystonia|early-onset generalized torsion dystonia|idiopathic dystonia|oppenheim dystonia|early-onset torsion dystonia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Low match BILATERAL STRIOPALLIDODENTATE CALCINOSIS


Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Low match SCHIZOPHRENIA 19; SCZD19


SCHIZOPHRENIA 19; SCZD19 Is also known as schizophrenia 19 with or without an affective disorder

Related symptoms:

  • Behavioral abnormality
  • Psychosis
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 19; SCZD19

Low match MAJOR DEPRESSIVE DISORDER; MDD


MAJOR DEPRESSIVE DISORDER; MDD Is also known as unipolar depression

Related symptoms:

  • Neoplasm
  • Behavioral abnormality
  • Depressivity
  • Anxiety
  • Abnormality of the liver


SOURCES: OMIM MENDELIAN

More info about MAJOR DEPRESSIVE DISORDER; MDD

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Bipolar affective disorder

Symptoms // Phenotype % cases
Depressivity Very Common - Between 80% and 100% cases
Rigidity Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases
Parkinsonism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Bipolar affective disorder. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Memory impairment Fatigue Psychosis Gait disturbance Myopathy Muscle weakness Tremor Cognitive impairment Anxiety Peripheral neuropathy Diabetes mellitus Seizures Cardiomyopathy Visual impairment Cataract Ataxia Bradykinesia Premature ovarian insufficiency Behavioral abnormality Dementia Dystonia Gliosis Abnormality of movement Focal dystonia Lethargy Ptosis Osteoporosis Headache Sensory neuropathy Left ventricular hypertrophy Emotional lability Hypertension Abnormality of the liver Arrhythmia Failure to thrive Chorea Limb muscle weakness Hypertonia Neuronal loss in central nervous system Mental deterioration Abnormality of extrapyramidal motor function Proximal muscle weakness Schizophrenia Elevated serum creatine phosphokinase Babinski sign Sensory axonal neuropathy Hyporeflexia Cerebral atrophy

Rare Symptoms - Less than 30% cases


Progressive external ophthalmoplegia Resting tremor Cytochrome C oxidase-negative muscle fibers Myalgia Ophthalmoparesis Muscle cramps Hearing impairment Sensorineural hearing impairment Pain Respiratory insufficiency Hypogonadism Hypothyroidism Ophthalmoplegia Migraine Dysphonia Increased serum lactate Amenorrhea Progressive muscle weakness Exercise intolerance External ophthalmoplegia Ragged-red muscle fibers EMG: myopathic abnormalities Multiple mitochondrial DNA deletions Bruising susceptibility Subsarcolemmal accumulations of abnormally shaped mitochondria Onychomycosis Truncal obesity Telangiectasia of the skin Generalized hyperpigmentation Aseptic necrosis Adrenal hyperplasia Pituitary adenoma Metrorrhagia Acne Intellectual disability Generalized hypotonia Gait ataxia Facial palsy Absent Achilles reflex Hyperreflexia Alcoholism Menorrhagia Lipodystrophy Neoplasm Orofacial dyskinesia Edema Kyphosis Immunodeficiency Visual loss Abdominal pain Infertility Sleep disturbance Hypokalemia Recurrent fractures Round face Thin skin Nephrolithiasis Generalized hirsutism Venous thrombosis Recurrent skin infections Global developmental delay Mitochondrial myopathy Dilated cardiomyopathy Apathy Mutism Frontotemporal dementia Insomnia Ventricular fibrillation Abnormal lower motor neuron morphology Hallucinations Elevated hepatic transaminase Paresthesia Ventricular arrhythmia Personality changes Rhabdomyolysis Areflexia Sensorimotor neuropathy Hepatomegaly Involuntary movements Short stature Brain atrophy Atrial fibrillation Dyskinesia Lower limb muscle weakness Impaired distal vibration sensation Muscle fiber necrosis Nocturia Acanthocytosis Impaired distal proprioception Cogwheel rigidity Acute rhabdomyolysis Progressive ophthalmoplegia Quadriceps muscle weakness Focal white matter lesions Scoliosis Muscular hypotonia Flexion contracture Distal muscle weakness Hyperlordosis Torticollis Abnormality of the voice Gastroparesis Skeletal myopathy Parkinsonism with favorable response to dopaminergic medication Difficulty climbing stairs Pigmentary retinopathy Primary amenorrhea Palpitations Frequent falls Cerebral visual impairment Hypergonadotropic hypogonadism Goiter Easy fatigability Abnormality of mitochondrial metabolism Increased variability in muscle fiber diameter Glucose intolerance Hypokinesia Testicular atrophy Exertional dyspnea Secondary amenorrhea Hyperthyroidism Gonadal dysgenesis Ketosis Facial diplegia Hypomimic face Shoulder girdle muscle weakness Reduced ejection fraction Neurodegeneration Abnormality of the musculature Abnormality of the mitochondrion Multiple joint contractures Abnormal posturing Blepharospasm Myoclonus Slurred speech Dysdiadochokinesis Oral-pharyngeal dysphagia Athetosis Mask-like facies Abnormality of neuronal migration Basal ganglia calcification Progressive encephalopathy Lewy bodies Calcinosis Pseudohypoparathyroidism Mood swings Muscle stiffness Subcutaneous hemorrhage Limb dysmetria Focal motor seizures Micrographia Progressive choreoathetosis Pill-rolling tremor Calcification of the small brain vessels Dense calcifications in the cerebellar dentate nucleus Stroke Mania Agoraphobia Respiratory failure Clumsiness Generalized dystonia Encephalopathy Action tremor Torsion dystonia Oromandibular dystonia Writer's cramp Lactic acidosis Craniofacial dystonia Microcephaly Motor delay Intrauterine growth retardation Ventriculomegaly Thrombocytopenia Paralysis Broad-based gait Abnormal pyramidal sign Corneal opacity Neurological speech impairment Dysmetria Vertigo Postural instability Abnormal cerebellum morphology Urinary incontinence Cerebral calcification Progressive neurologic deterioration Choreoathetosis Coma Cerebellar atrophy Peripheral axonal neuropathy Confusion Sleep apnea Cardiac arrest Generalized muscle weakness Ventricular hypertrophy Status epilepticus Generalized-onset seizure Diplopia Bradycardia Hemolytic anemia Progressive hearing impairment Bilateral ptosis Obsessive-compulsive behavior Abnormality of the cerebral white matter Coronary artery atherosclerosis Abnormality of the thyroid gland Hepatosplenomegaly Dyspnea Limb-girdle muscle weakness Sensory ataxia Hyperhidrosis Splenomegaly Congestive heart failure Severe global developmental delay Cerebral cortical atrophy Weakness due to upper motor neuron dysfunction Abnormal corpus striatum morphology Supraventricular tachycardia Excessive salivation Hyporeflexia of lower limbs Increased muscle fatiguability Personality disorder Generalized limb muscle atrophy Impaired temperature sensation Abnormal social behavior Abnormal lactate dehydrogenase activity Caudate atrophy Recurrent singultus Bowel incontinence Blood group antigen abnormality Abnormal facial expression Hyporeflexia of upper limbs Abnormality of the astrocytes Motor axonal neuropathy Left bundle branch block Ventricular extrasystoles Restlessness Impaired pain sensation Impaired vibration sensation in the lower limbs Anemia Neuronal loss in the cerebral cortex Abnormality of eye movement Primary hypercortisolism Increased circulating cortisol level Paraparesis Neoplasm of the endocrine system Abdominal obesity Decreased circulating ACTH level Mood changes Fasciculations Moon facies Dorsocervical fat pad Macronodular adrenal hyperplasia Tetraparesis Striae distensae Apraxia Tics Constipation Pes cavus Bilateral sensorineural hearing impairment Acidosis Gastroesophageal reflux Progressive cerebellar ataxia Retinopathy Congenital cataract Subarachnoid hemorrhage Impulsivity Extrapyramidal dyskinesia Olivopontocerebellar atrophy Obesity Abnormal mitochondrial morphology Motor neuron atrophy Dyscalculia Osteopenia Abnormal upper motor neuron morphology Perseveration Degeneration of the lateral corticospinal tracts Hirsutism Disinhibition Supranuclear gaze palsy Orthostatic hypotension Hypotension Visual hallucinations Increased body weight Delusions Neurofibrillary tangles Bulbar palsy Generalized amyotrophy Global brain atrophy Agitation Amyotrophic lateral sclerosis Alzheimer disease Suicidal ideation



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