Hyperreflexia, and Dilated cardiomyopathy

Diseases related with Hyperreflexia and Dilated cardiomyopathy

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


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Medium match FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA


Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

Medium match MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS


Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

Medium match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


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

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Other less relevant matches:

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Medium match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Medium match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Medium match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Medium match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Medium match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Very Common - Between 80% and 100% cases
Congestive heart failure Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hyperreflexia and Dilated cardiomyopathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Ataxia

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Respiratory failure Acidosis Myopathy Respiratory distress Global developmental delay Optic atrophy Failure to thrive Dystonia Nystagmus Hepatomegaly Microcephaly Fatigue Cataract Short stature Respiratory tract infection Feeding difficulties Intellectual disability Dysphagia Dysarthria Hypertonia Muscular hypotonia Arrhythmia Abnormality of movement Limb muscle weakness Respiratory insufficiency Cardiomegaly Areflexia Recurrent respiratory infections Neonatal hypotonia Proximal muscle weakness Feeding difficulties in infancy Hyperlordosis Left ventricular hypertrophy Dementia Pulmonary hypoplasia Gait ataxia Ketosis Depressed nasal bridge Hearing impairment Ptosis Growth delay Aciduria Tetraplegia Coma Metabolic acidosis Neurodegeneration Hypoglycemia Generalized muscle weakness Abnormal facial shape High palate Encephalopathy Difficulty walking Exercise intolerance Ragged-red muscle fibers Slurred speech Tremor Increased serum lactate Flexion contracture Scoliosis Gait disturbance Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Unsteady gait Pain Ketonuria Muscular hypotonia of the trunk Rhabdomyolysis Easy fatigability Leukodystrophy Lactic acidosis Developmental regression Babinski sign Chorea Vomiting Visual impairment Blindness Neutropenia Choreoathetosis Hyperactivity Severe global developmental delay Cerebellar atrophy Spastic tetraparesis Spastic paraparesis Paraparesis Limb ataxia Abnormality of the cerebral white matter Spastic tetraplegia Involuntary movements Progressive cerebellar ataxia Leukoencephalopathy Abnormality of the foot Kyphosis Arthralgia Hepatic steatosis Renal dysplasia Hyperammonemia Polycystic kidney dysplasia Hypoketotic hypoglycemia Joint stiffness Coarse facial features Lethargy Nonketotic hypoglycemia Increased muscle lipid content Weight loss Long philtrum Hypertelorism Strabismus Polymicrogyria Elevated hepatic transaminase Depressivity Decreased liver function Cerebral cortical atrophy Visual loss Ventricular hypertrophy Ventricular arrhythmia Optic neuropathy Heart block Heterotopia High forehead Congenital cataract Myoclonus Low-set ears Ventriculomegaly Elevated serum creatine phosphokinase Agenesis of corpus callosum Sensorineural hearing impairment Diarrhea Recurrent infections Dyspnea Apnea Febrile seizures Infantile muscular hypotonia Waddling gait Chest pain Pes cavus Knee flexion contracture Myalgia Falls Edema Abnormality of the skeletal system Cognitive impairment Severe failure to thrive Jaundice Headache Behavioral abnormality Stridor Macrocephaly Fever Ventricular fibrillation Abnormality of ganglioside metabolism Decreased beta-galactosidase activity Thickened ribs Cerebral degeneration Abnormality of the pinna Abnormality of the scrotum Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Exaggerated startle response Psychomotor deterioration Telecanthus Aspiration pneumonia Abnormality of the liver Hemiplegia Pancreatitis Scapular winging Type I diabetes mellitus Poor head control Cardiac arrest Clonus Depressed nasal tip Wide anterior fontanel Back pain Anorexia Mutism Ocular albinism Pachygyria Abnormality of the genital system Tetraparesis Abnormal diaphysis morphology Muscle cramps Renal cyst Nausea Joint hyperflexibility Nausea and vomiting Gliosis Fair hair Abnormality of the cerebellar vermis Pontocerebellar atrophy Macroglossia Broad nasal tip Decreased proportion of CD4-positive T cells Abdominal distention Corneal opacity Camptodactyly of finger Hepatosplenomegaly Abnormality of the mandible Hypopigmentation of the fundus Skeletal dysplasia Recurrent fungal infections Depressed nasal ridge Macrotia Mandibular prognathia Granulocytopenia Severe short stature Inguinal hernia Splenomegaly Short neck Frontal bossing Skeletal muscle atrophy Abnormal posturing Abnormality of the skin Hypertrichosis Renal tubular dysfunction Abnormal heart valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Difficulty climbing stairs Hypoplasia of the pons Abnormality of the retinal vasculature Dysostosis multiplex Chronic mucocutaneous candidiasis Abnormality of the thymus Beaking of vertebral bodies Generalized dystonia Abnormal cortical gyration Abnormality of the optic disc Abnormality of the metaphysis Bundle branch block Encephalitis Abnormality of the urinary system Generalized hirsutism Recurrent aspiration pneumonia Recurrent viral infections Gingival overgrowth Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Hypoplasia of the thymus Cellular immunodeficiency Restrictive ventilatory defect Drowsiness Glycosuria Pneumonia Postnatal growth retardation Cleft lip EEG abnormality Rod-cone dystrophy Cerebellar hypoplasia Lymphopenia Aspiration Increased body weight Recurrent bacterial infections Leukopenia Severe T-cell immunodeficiency Wide nose Aplasia/Hypoplasia of the corpus callosum Adducted thumb Hypospadias Dilatation Poor suck Immunodeficiency Anteverted nares Epicanthus Congenital sensorineural hearing impairment Cleft palate Micrognathia Cleft upper lip Thick vermilion border Abnormality of blood glucose concentration Aplasia/Hypoplasia of the macula Frontoparietal polymicrogyria Cerebellar vermis hypoplasia Abnormal immunoglobulin level Cutaneous anergy Narrow forehead Decreased T cell activation Decreased antibody level in blood Schizencephaly Delayed myelination Abnormal macular morphology Sepsis Ureteral atresia High, narrow palate Immunoglobulin IgG2 deficiency Penile hypospadias Triangular face Muscle flaccidity Hypopigmentation of the skin Sleep disturbance Progressive neurologic deterioration Open mouth Decreased body weight Abnormality of retinal pigmentation Progressive microcephaly Albinism Combined immunodeficiency Acute kidney injury Proximal tubulopathy Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting White matter neuronal heterotopia Hypoglycemic coma Medulloblastoma Exercise-induced myalgia Organic aciduria Chronic fatigue Excessive daytime somnolence Cardiorespiratory arrest IgG deficiency Progressive proximal muscle weakness Myoglobinuria Hypotelorism Fatigable weakness Personality disorder Impaired mastication Neurodevelopmental delay Bronchitis Electron transfer flavoprotein-ubiquinone oxidoreductase defect Macular atrophy Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Centrally nucleated skeletal muscle fibers Limb tremor Renal tubular acidosis Abnormality of immune system physiology Hypopigmentation of hair Ketotic hypoglycemia Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Severe sensorineural hearing impairment Renal cortical cysts Elevated plasma acylcarnitine levels Hemifacial hypertrophy Long-chain dicarboxylic aciduria Urinary incontinence Hyperchloremic acidosis Testicular dysgenesis Nonprogressive cerebellar ataxia 3-Methylglutaconic aciduria Abnormality of the basal ganglia Skeletal myopathy Short attention span Athetosis Progressive visual loss Memory impairment Confusion Absent speech Paraplegia Spastic paraplegia Gastroesophageal reflux Cerebral atrophy Delayed speech and language development Late-onset distal muscle weakness Percussion myotonia Fetal distress Diaphragmatic paralysis Neck flexor weakness Slender build Progressive forgetfulness Retinopathy Type 1 muscle fiber predominance Decreased activity of mitochondrial complex II Abnormality of eye movement Abnormal pyramidal sign Pallor Pes planus Kyphoscoliosis Reduced visual acuity Diabetes mellitus Talipes equinovarus Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Progressive leukoencephalopathy Ophthalmoplegia Increased intramyocellular lipid droplets Hemolytic-uremic syndrome Paraganglioma Left ventricular noncompaction Preeclampsia Oral-pharyngeal dysphagia External ophthalmoplegia Congenital hip dislocation Mitral regurgitation Pigmentary retinopathy Generalized myoclonic seizures Breech presentation Nemaline bodies Dysmetria Mental deterioration Pectus excavatum Increased adipose tissue Increased serum pyruvate Lower limb pain Mild global developmental delay Progressive external ophthalmoplegia Progressive sensorineural hearing impairment Multiple lipomas Ophthalmoparesis EMG abnormality Abnormality of cardiovascular system morphology Polyhydramnios Intellectual disability, severe Hypertension Facial myokymia Paroxysmal dyskinesia Orofacial dyskinesia Myokymia Limb hypertonia Resting tremor Delayed gross motor development Dyskinesia Anxiety Hyporeflexia Retrognathia Fetal akinesia sequence Congenital contracture Facial diplegia EMG: neuropathic changes Hypoventilation Thin ribs Spinal rigidity Bulbar palsy Mildly elevated creatine phosphokinase Myopathic facies Mask-like facies Myotonia Akinesia EMG: myopathic abnormalities Rigidity Respiratory insufficiency due to muscle weakness Foot dorsiflexor weakness Narrow face Joint contracture of the hand Frequent falls Decreased fetal movement Genu valgum Arthrogryposis multiplex congenita Cough Paralysis Facial palsy Lower limb muscle weakness Vertigo Elevated serum long-chain fatty acids Abolished vibration sense Tapered finger Bulbous nose Hepatic failure Hydronephrosis Prominent forehead Posteriorly rotated ears Renal insufficiency Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Spinal cord posterior columns myelin loss Sloping forehead Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Wide intermamillary distance Oligohydramnios Concentric hypertrophic cardiomyopathy Biventricular hypertrophy Decreased plasma total carnitine Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Tapered toe Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Abnormality of nervous system morphology Elbow flexion contracture Long toe Ureteral duplication Cystic renal dysplasia Hypothermia Enlarged kidney Hyperkalemia Cerebral hemorrhage Hypoplastic toenails Overfolded helix Narrow palate Multicystic kidney dysplasia Cerebellar cortical atrophy Diabetic ketoacidosis Peripheral axonal neuropathy Spastic gait Sensory axonal neuropathy Hammertoe Impaired vibratory sensation Dysdiadochokinesis Cachexia Incoordination Reduced tendon reflexes Muscle stiffness Truncal ataxia Insulin resistance Lower limb spasticity Glucose intolerance Clumsiness Palpitations Atrial fibrillation Intention tremor Optic disc pallor Peripheral demyelination Sensory impairment Abnormal cerebellum morphology Sensory neuropathy Inability to walk Tachycardia Decreased motor nerve conduction velocity Visual field defect Decreased sensory nerve conduction velocity Asymmetric septal hypertrophy Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Impaired proprioception Hyperactive deep tendon reflexes Gait imbalance Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Urinary bladder sphincter dysfunction Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Acute bronchitis



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