Hyperreflexia, and Generalized muscle weakness

Diseases related with Hyperreflexia and Generalized muscle weakness

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

Top matches:

Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.

Related symptoms:

  • Gait disturbance
  • Babinski sign
  • Arthralgia
  • Spastic paraplegia
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-PAGET DISEASE OF BONE SYNDROME

Medium match FAZIO-LONDE DISEASE

Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).

FAZIO-LONDE DISEASE Is also known as bulbar palsy, progressive, of childhood

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about FAZIO-LONDE DISEASE

Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.

Related symptoms:

  • Seizures
  • Microcephaly
  • Ventriculomegaly
  • Headache
  • Obesity


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA

Other less relevant matches:

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als|amyotrophic lateral sclerosis 1, autosomal dominant|fals|lou gehrig disease|charcot disease|amyotrophic lateral sclerosis 1, familial

Related symptoms:

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS

DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii|e3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|dld deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Medium match KUFOR-RAKEB SYNDROME

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.

KUFOR-RAKEB SYNDROME Is also known as parkinson disease 9, autosomal recessive, juvenile-onset|park9|pallidopyramidal degeneration with supranuclear upgaze paresis and dementia|krppd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about KUFOR-RAKEB SYNDROME

Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

Top 5 symptoms//phenotypes associated to Hyperreflexia and Generalized muscle weakness

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Generalized muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Paralysis Dysphagia Hypertonia Failure to thrive Cerebral atrophy Neurodegeneration Ataxia Global developmental delay Motor delay Feeding difficulties Fever Parkinsonism Tetraplegia Nystagmus Dystonia Dementia Areflexia Pain Optic atrophy Respiratory failure Bulbar palsy Fatigue Rigidity Gait disturbance Respiratory insufficiency Hearing impairment Flexion contracture Babinski sign

Rare Symptoms - Less than 30% cases

Tremor Spastic tetraplegia Blindness High palate Cardiomyopathy Epicanthus Cerebellar atrophy Hyporeflexia Generalized myoclonic seizures Recurrent respiratory infections Cerebellar cortical atrophy Arthrogryposis multiplex congenita Muscular hypotonia Decreased fetal movement Prominent forehead Developmental regression Respiratory tract infection Abnormality of eye movement Abnormal pyramidal sign Vacuolated lymphocytes Mental deterioration Cerebral cortical atrophy Degeneration of the lateral corticospinal tracts Paraparesis Peripheral neuropathy Akinesia Mask-like facies Intellectual disability Encephalopathy Brisk reflexes Apathy Poor suck Progressive neurologic deterioration Intention tremor Lethargy Abnormality of the liver Hypertrophic cardiomyopathy Pseudobulbar paralysis Abnormality of extrapyramidal motor function Fasciculations Gliosis EMG: neuropathic changes Lower limb hyperreflexia Facial palsy Spastic paraplegia Oral-pharyngeal dysphagia Amyotrophic lateral sclerosis Facial diplegia Diaphragmatic paralysis Myoclonus Ventriculomegaly Neuronal loss in central nervous system Gangrene Sea-blue histiocytosis Spastic paraparesis Loss of speech Developmental stagnation Abnormality of the spleen Visceromegaly Psychomotor deterioration Loss of ability to walk Decerebrate rigidity Progressive psychomotor deterioration EMG: chronic denervation signs Lumbar kyphosis Scoliosis Decreased beta-galactosidase activity Abnormality of the face Abnormality of the skeletal system Respiratory distress Edema Myopathy Congestive heart failure Pectus excavatum Urinary retention Morphological abnormality of the pyramidal tract Pes cavus Polyhydramnios Retrognathia Coxa valga Arthralgia Clumsiness Fractures of the long bones Intrauterine growth retardation Short neck Limb fasciculations Tongue fasciculations Hypothalamic hypothyroidism Autoamputation of digits Elevated alkaline phosphatase Inability to walk Bone pain Poor head control Adducted thumb Weak cry Abnormal facial shape Neonatal hypotonia Depressed nasal bridge Autoamputation Hypertension Anteverted nares Kyphosis Renal insufficiency Posteriorly rotated ears Spastic gait Hepatosplenomegaly Recurrent fractures Platyspondyly Spinal deformities Corpus callosum atrophy Apnea Proximal muscle weakness Hypothyroidism Neck flexor weakness Fetal distress Percussion myotonia Late-onset distal muscle weakness Micrognathia Strabismus Visual impairment Frontal bossing Short nose Abnormality of metabolism/homeostasis Visual loss Constipation Muscular hypotonia of the trunk Breech presentation Abnormality of the cerebral white matter Lewy bodies Unsteady gait Tetraparesis Choreoathetosis Sensorimotor neuropathy Severe muscular hypotonia Decreased nerve conduction velocity Keratitis Epiphora Diabetes insipidus Keratoconjunctivitis sicca Slender build Type 1 muscle fiber predominance Abnormality of visual evoked potentials Narrow face Feeding difficulties in infancy Hyperlordosis Cough Dilated cardiomyopathy Limb muscle weakness Increased spinal bone density Genu valgum Falls Pulmonary hypoplasia Waddling gait Frequent falls Joint contracture of the hand Foot dorsiflexor weakness Nemaline bodies Knee flexion contracture Respiratory insufficiency due to muscle weakness Infantile muscular hypotonia EMG: myopathic abnormalities Congenital contracture Myotonia Myopathic facies Mildly elevated creatine phosphokinase Spinal rigidity Thin ribs Hypoventilation Fetal akinesia sequence Abnormality of skeletal morphology Eyelid apraxia Sensorineural hearing impairment Decreased liver function Hypoglycemia Elevated hepatic transaminase Moderate global developmental delay Hypomagnesemia Attention deficit hyperactivity disorder Hyperactive deep tendon reflexes Lactic acidosis Hepatic failure Metabolic acidosis Aciduria Vertigo Poor speech Incoordination Gait ataxia Autistic behavior Intellectual disability, moderate Obesity Opisthotonus Exertional dyspnea Polycythemia Neonatal hypoglycemia Hypothermia Organic aciduria Severe lactic acidosis Prolonged prothrombin time Vegetative state Acidosis Abdominal pain Recurrent encephalopathy Fatigable weakness of respiratory muscles Slurred speech Emotional lability Agitation Muscle fibrillation Xerostomia Frontotemporal dementia Abnormal lower motor neuron morphology Degeneration of anterior horn cells Peripheral demyelination Functional respiratory abnormality Motor neuron atrophy Laryngospasm Fatigable weakness of bulbar muscles Hyperactivity Fatigable weakness of swallowing muscles Muscle cramps Nausea and vomiting Anxiety Skeletal dysplasia Hepatomegaly Dyspnea Depressivity Skeletal muscle atrophy Vomiting Cataract Hypermagnesiuria Abnormal myelination Methemoglobinemia Headache Low-set ears Anarthria Blepharospasm Abnormality of finger Slow saccadic eye movements Hypomimic face Visual hallucinations Diffuse cerebral atrophy Short attention span Supranuclear gaze palsy Hyposmia Upper motor neuron dysfunction Parkinsonism with favorable response to dopaminergic medication Cogwheel rigidity Vertical supranuclear gaze palsy Hypokinesia Hyperreflexia in upper limbs Oculogyric crisis Psychotic episodes Leg muscle stiffness Stooped posture Abnormality of higher mental function Ptosis Difficulty in tongue movements Upgaze palsy Hyperactive patellar reflex Sleep apnea Lingual dystonia Hypertelorism Pulmonary embolism Bowel incontinence Cognitive impairment Confusion Progressive inspiratory stridor Dysarthria Generalized hyperreflexia Intellectual disability, mild Diaphragmatic weakness Inspiratory stridor Difficulty walking Aggressive behavior Abnormality of the eye Axial muscle weakness Abnormality of the foot Paraplegia Distal sensory impairment Global brain atrophy Dyskinesia Postural instability Chorea Brain atrophy Urinary incontinence Bradykinesia Psychosis Hallucinations Stridor Torticollis Anosmia Bilateral ptosis Progressive muscle weakness Cerebellar gliosis


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