Skeletal muscle atrophy, and Psychosis

Diseases related with Skeletal muscle atrophy and Psychosis

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

Top matches:

Related symptoms:

  • Cognitive impairment
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Tremor
  • Babinski sign


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7

Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2

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

Other less relevant matches:

Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 15 Is also known as spg15|spastic paraplegia and retinal degeneration|kjellin syndrome|hereditary spastic paraparesis type 15|spastic paraplegia-retinal degeneration syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 15

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Psychosis

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Cognitive impairment Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Babinski sign Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressivity Dysarthria Peripheral neuropathy Limb muscle weakness Ataxia Fasciculations Pes cavus Global developmental delay Neurodegeneration Behavioral abnormality Hyperreflexia Urinary incontinence Dementia Seizures Abnormality of extrapyramidal motor function Brain atrophy Paraparesis Hepatomegaly Peripheral axonal neuropathy Generalized hypotonia Emotional lability Mental deterioration Proximal muscle weakness Gait disturbance Hallucinations Generalized amyotrophy Dystonia Hearing impairment Bradykinesia Lower limb muscle weakness Amyotrophic lateral sclerosis Psychotic episodes Rigidity Respiratory failure Nystagmus Dysphagia

Rare Symptoms - Less than 30% cases

Spasticity Visual impairment Supranuclear gaze palsy Pigmentary retinopathy Diabetes mellitus Reduced visual acuity Blindness Developmental regression Abnormality of the cerebral white matter Distal amyotrophy Frontotemporal dementia Polyneuropathy Abnormal cerebellum morphology Hypertension Respiratory tract infection Cardiomegaly Osteoporosis Cherry red spot of the macula Feeding difficulties Intellectual disability, severe Osteopenia Truncal obesity Sensory neuropathy Mood changes Visual loss Respiratory insufficiency Fatigue Paralysis Myopia Failure to thrive Demyelinating peripheral neuropathy Abnormal anterior horn cell morphology Optic atrophy Personality changes Memory impairment Incoordination Cerebral cortical atrophy Cerebral atrophy Intellectual disability, mild Apraxia Olivopontocerebellar atrophy Ptosis Myoclonus Progressive cerebellar ataxia Cerebellar atrophy Parkinsonism Apathy Aggressive behavior Anxiety Orthostatic hypotension Thrombocytopenia Renal insufficiency Splenomegaly Diarrhea Vomiting Confusion Episodic abdominal pain Muscular hypotonia Short stature Zebra bodies GM2-ganglioside accumulation Internuclear ophthalmoplegia Therapeutic abortion Anemia Delayed skeletal maturation Acidosis Recurrent fractures Aminoaciduria Fine hair Aciduria Increased serum lactate Abnormal bleeding Postural instability Coma Jaundice Metabolic acidosis Cirrhosis Nausea Stage 5 chronic kidney disease Nausea and vomiting Malabsorption Sparse hair Megalencephaly Paranoia Decerebrate rigidity Foot dorsiflexor weakness Progressive hearing impairment Upper motor neuron dysfunction Ophthalmoplegia Hypercholesterolemia EMG abnormality Muscle stiffness Aspiration Abnormality of glycosphingolipid metabolism Progressive muscle weakness Involuntary movements Clumsiness Choreoathetosis Generalized muscle weakness Muscle cramps Progressive psychomotor deterioration Melanoma Hyperkinesis Falls Action tremor Hypertonia Psychomotor deterioration Exaggerated startle response Rod-cone dystrophy Torsion dystonia Motor deterioration Proximal amyotrophy Poor head control Irritability Loss of speech Pallor Muscle fibrillation Oral-pharyngeal dysphagia Spinal muscular atrophy Slurred speech Pancreatitis Hyperextensible skin Leukopenia Macrocephaly Tetraplegia Diffuse white matter abnormalities Axonal degeneration/regeneration Limb tremor Hypoplasia of the maxilla Decreased sensory nerve conduction velocity Tapered finger Inability to walk Narrow forehead Long face Facial asymmetry Recurrent respiratory infections Craniosynostosis Hyperhidrosis Coarse facial features Facial palsy Esotropia Spastic tetraplegia EEG abnormality Progressive peripheral neuropathy Aqueductal stenosis Facial diplegia Motor polyneuropathy Increased CSF protein Turricephaly Onion bulb formation Partial agenesis of the corpus callosum Infantile spasms Abnormality of retinal pigmentation 2-3 toe syndactyly EMG: chronic denervation signs Decreased motor nerve conduction velocity Hemiplegia/hemiparesis Decreased nerve conduction velocity CNS hypomyelination Low anterior hairline Sensorimotor neuropathy Neonatal hypotonia Hepatosplenomegaly Cutis laxa Hemophagocytosis Protein avoidance Pulmonary hemorrhage Oroticaciduria Alveolar proteinosis Impotence Hyperlysinuria Micronodular cirrhosis Increased serum ferritin Hypohidrosis Glomerulopathy Malnutrition Abnormality of the coagulation cascade Glomerulonephritis Systemic lupus erythematosus Restrictive deficit on pulmonary function testing Hyperammonemia Hemiplegia Chronic diarrhea Brachycephaly High palate Agenesis of corpus callosum Areflexia Short nose Ventriculomegaly Wide nasal bridge Motor delay Macroglossia Flexion contracture Progressive neurologic deterioration Abnormal facial shape Strabismus Hypertelorism Scoliosis Microcephaly Asterixis Argininuria Ornithinuria Macrotia Obesity Psychotic mentation Specific learning disability Urinary urgency Bowel incontinence Impaired vibratory sensation Macular degeneration Clonus Spastic gait Lower limb spasticity Retinal degeneration Progressive spasticity Paraplegia Abnormality of eye movement Spastic paraplegia Hypoplasia of the corpus callosum Weakness due to upper motor neuron dysfunction Neuronal loss in the cerebral cortex Extrapyramidal dyskinesia Lower limb hyperreflexia Hand tremor Motor neuron atrophy Yellow/white lesions of the retina Elevated serum creatine phosphokinase Arrhythmia Congestive heart failure Myopathy Cardiomyopathy Respiratory distress Pain Deep cerebral white matter hyperdensities Urinary bladder sphincter dysfunction Retinal flecks Functional abnormality of the bladder Leg muscle stiffness Mood swings Pseudobulbar paralysis Upper limb spasticity Saccadic smooth pursuit Upper limb muscle weakness Abnormal mitochondrial morphology Dyscalculia Hypertrophic cardiomyopathy Horizontal nystagmus Impaired social interactions Axonal degeneration Obsessive-compulsive behavior Abnormality of mitochondrial metabolism Dysdiadochokinesis Dysphonia Spastic paraparesis Truncal ataxia Distal muscle weakness Diplopia Dysmetria Abnormal pyramidal sign Gait ataxia Bulimia Blepharospasm Resting tremor Postural tremor Hyporeflexia Gliosis Abnormal upper motor neuron morphology Bipolar affective disorder Perseveration Degeneration of the lateral corticospinal tracts Disinhibition Focal dystonia Visual hallucinations Abnormal lower motor neuron morphology Delusions Neurofibrillary tangles Chorea Bulbar palsy Global brain atrophy Alzheimer disease Impulsivity Mutism Tetraparesis Bilateral sensorineural hearing impairment Neuronal loss in central nervous system Hyperactivity Abnormality of the eye Abnormal fear/anxiety-related behavior Amenorrhea Glucose intolerance Acne Hypokalemia Generalized hirsutism Increased body weight Nephrolithiasis Thin skin Round face Striae distensae Hirsutism Bruising susceptibility Alopecia Kyphosis Edema Neoplasm Glycogen accumulation in muscle fiber lysosomes Hyperparathyroidism Increased circulating cortisol level Suicidal ideation Increased circulating ACTH level Macronodular adrenal hyperplasia Dorsocervical fat pad Moon facies Adrenocorticotropic hormone excess Menometrorrhagia Peripheral edema Abnormality of the menstrual cycle Facial erythema Oligomenorrhea Biconcave vertebral bodies Abdominal obesity Poor wound healing Ecchymosis Vertebral compression fractures Alkalosis Pituitary adenoma Meningioma Increased cerebral lipofuscin Macular hypopigmentation Abnormality of the liver Left ventricular hypertrophy Cone/cone-rod dystrophy Respiratory insufficiency due to muscle weakness Ventricular tachycardia Hyperlipidemia Exercise intolerance Cardiac arrest Decreased liver function Palpitations Ventricular arrhythmia Atrial fibrillation Ventricular hypertrophy Progressive visual loss Chest pain Distal sensory impairment Dilated cardiomyopathy Retinopathy Scarring EMG: myopathic abnormalities Abnormal electroretinogram Left ventricular systolic dysfunction Skeletal myopathy Myocardial necrosis Ventricular preexcitation Impaired myocardial contractility Exercise-induced muscle cramps Retinal pigment epithelial mottling Muscle flaccidity Autophagic vacuoles Myofibrillar myopathy Back pain Myocardial fibrosis Wolff-Parkinson-White syndrome Reduced ejection fraction Abnormality of the gastrointestinal tract Cardiorespiratory arrest Hypokinesia Abnormal retinal morphology Neurodevelopmental delay Impaired thermal sensitivity


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