Hyperreflexia, and Waddling gait

Diseases related with Hyperreflexia and Waddling gait

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

Top matches:

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

Other less relevant matches:

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

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

Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

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

Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.

Related symptoms:

  • Muscle weakness
  • Tremor
  • Dysphagia
  • Myopathy
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPHEROID BODY MYOPATHY

Medium match MUSCLE FILAMINOPATHY

Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.

MUSCLE FILAMINOPATHY Is also known as myopathy, myofibrillar, filamin c-related|filaminopathy, autosomal dominant

Related symptoms:

  • Muscle weakness
  • Pain
  • Respiratory insufficiency
  • Areflexia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUSCLE FILAMINOPATHY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Waddling gait

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Waddling gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Global developmental delay Short stature Muscular hypotonia Spasticity Babinski sign Elevated serum creatine phosphokinase Strabismus Tetraplegia Abnormality of the periventricular white matter Areflexia Nystagmus Myopathy Motor delay Cardiomyopathy Paraplegia Dysphagia Narrow face Limb muscle weakness Failure to thrive Respiratory insufficiency Ataxia Spastic paraplegia Coarse facial features Neonatal hypotonia Hypertonia Microcephaly Tremor Ventriculomegaly Abnormal facial shape High palate

Rare Symptoms - Less than 30% cases

Respiratory distress Back pain Difficulty climbing stairs Myofibrillar myopathy Feeding difficulties Scoliosis Difficulty walking Progressive spastic paraplegia Abnormality of the nervous system Retrognathia Gait disturbance Peripheral neuropathy Myalgia Edema Pain Respiratory tract infection Nemaline bodies Hepatomegaly Myopathic facies Pulmonary hypoplasia Falls Dilated cardiomyopathy Hyperlordosis Cataract Hypertrophic cardiomyopathy Respiratory failure Congestive heart failure Dyspnea Cardiomegaly Slurred speech Generalized muscle weakness Neck flexor weakness Open mouth EMG: myopathic abnormalities Facial palsy Bulbous nose Cerebellar atrophy Everted upper lip vermilion Short philtrum Acetabular dysplasia Abnormality of the cerebral white matter Pachygyria Talipes equinovarus Dysarthria Joint contracture of the hand Absent speech Dystonia Lower limb muscle weakness Facial hypotonia Pes planus Intellectual disability, severe Febrile seizures Hypoplasia of the corpus callosum Genu recurvatum Wide nasal bridge Narrow forehead Spastic tetraplegia Wide mouth Renal dysplasia Tetraparesis Heterotopia Abnormality of the genital system Aciduria Increased serum lactate Gliosis Left ventricular hypertrophy Clonus Anorexia Wide anterior fontanel Decreased liver function Leukodystrophy Cardiac arrest Type I diabetes mellitus Exercise intolerance Scapular winging Pancreatitis Spastic tetraparesis Hyperammonemia Ragged-red muscle fibers Muscle cramps Abnormality of neuronal migration Renal cyst Vomiting Arrhythmia Encephalopathy Depressivity Headache Behavioral abnormality Diarrhea Fatigue Weight loss Macrocephaly Fever Depressed nasal bridge Urinary excretion of sialylated oligosaccharides Increased urinary O-linked sialopeptides Bone-marrow foam cells Cherry red spot of the macula Gait ataxia Acidosis Coma Congenital cataract Metabolic acidosis Mutism Lactic acidosis Nausea Joint hyperflexibility Nausea and vomiting Lethargy High forehead Abnormality of the liver Abnormality of the pinna Telecanthus Elevated hepatic transaminase Hypoglycemia Jaundice Arthralgia Hepatic steatosis Stridor Poor head control Ketotic hypoglycemia Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Increased muscle lipid content Abnormality of branched chain family amino acid metabolism Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Fatigable weakness of neck muscles Defective dehydrogenation of isovaleryl CoA and butyryl CoA Impaired mastication Proximal amyotrophy Abnormal peripheral nervous system morphology Muscle fiber splitting Low back pain Progressive muscle weakness Delayed speech and language development Absent Achilles reflex Centrally nucleated skeletal muscle fibers Hepatic periportal necrosis Nasal speech Broad-based gait Distal muscle weakness Abnormality of metabolism/homeostasis Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Limb tremor Nonketotic hypoglycemia Easy fatigability Acute kidney injury Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Myoglobinuria Drowsiness Fatigable weakness Rhabdomyolysis Excessive daytime somnolence Glycosuria Restrictive ventilatory defect Ventricular fibrillation Vacuolated lymphocytes Hemiplegia Polycystic kidney dysplasia Ketonuria Chronic fatigue Hypoglycemic coma Acute pancreatitis Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Loss of ability to walk Organic aciduria Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Facial edema Choreoathetosis Foam cells Overweight Silver-gray hair Hyperpigmented nevi Hyperpigmentation in sun-exposed areas Premature graying of body hair Downslanted palpebral fissures Cerebral cortical atrophy Poor speech Talipes Amblyopia Stereotypy Pointed chin Drooling Decreased muscle mass Long nose Generalized joint laxity Flexion contracture of toe Spastic dysarthria Shyness Prominent antihelix Intellectual disability, profound Macroglossia Abnormality of the skeletal system Muscular dystrophy Cerebellar hypoplasia Myopia Pectus excavatum Hyporeflexia Recurrent respiratory infections Pes cavus Excessive salivation Bowel urgency Multiple lentigines Rigidity Sepsis Lower limb hyperreflexia Achilles tendon contracture Decreased light- and dark-adapted electroretinogram amplitude Cerebellar cyst Mild myopia Hypoplasia of the brainstem Micrognathia Cognitive impairment Congenital muscular dystrophy Gowers sign Kyphoscoliosis Abnormal electroretinogram Hip dislocation Hypopigmentation of the skin Nevus Progressive spastic paraparesis Bowel incontinence White hair Progeroid facial appearance Vitiligo Horizontal nystagmus Axonal degeneration Premature graying of hair Abnormality of the genitourinary system Sensory impairment Spastic paraparesis Paraparesis Horseshoe kidney Elbow flexion contracture Cafe-au-lait spot Spastic gait Polyhydramnios Apnea Dysostosis multiplex Corneal opacity Blindness Splenomegaly Kyphosis Hernia Visual loss Inguinal hernia Dementia Myoclonus Osteopenia Skeletal dysplasia Hepatosplenomegaly Proteinuria Mental deterioration Pectus carinatum Abnormality of movement Visual impairment Dysmetria Neurodegeneration Ascites Progressive cerebellar ataxia Progressive visual loss Skeletal muscle hypertrophy Hydrops fetalis Laryngomalacia Hyperactive deep tendon reflexes Epiphyseal stippling Syringomyelia Hand tremor Thoracic kyphosis Barrel-shaped chest Skeletal muscle atrophy Sensorineural hearing impairment Feeding difficulties in infancy Mask-like facies Protruding tongue Paralysis Cough Arthrogryposis multiplex congenita Genu valgum Decreased fetal movement Frequent falls Foot dorsiflexor weakness Knee flexion contracture Respiratory insufficiency due to muscle weakness Infantile muscular hypotonia Congenital contracture Akinesia Myotonia Mildly elevated creatine phosphokinase Hearing impairment Type 1 muscle fiber predominance Late-onset distal muscle weakness Percussion myotonia Fetal distress Diaphragmatic paralysis Slender build Breech presentation Inability to walk Bulbar palsy Fetal akinesia sequence Facial diplegia EMG: neuropathic changes Hypoventilation Thin ribs Spinal rigidity Muscle fiber cytoplasmatic inclusion bodies


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