Failure to thrive, and Lower limb muscle weakness

Diseases related with Failure to thrive and Lower limb muscle weakness

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

Top matches:

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Other less relevant matches:

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Autosomal recessive axonal CMT2A2B is a neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy (summary by Polke et al., 2011).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 Is also known as progressive external ophthalmoplegia, autosomal dominant 4

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4

Top 5 symptoms//phenotypes associated to Failure to thrive and Lower limb muscle weakness

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Lower limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Limb muscle weakness Progressive muscle weakness Motor delay Feeding difficulties Peripheral neuropathy Arrhythmia Elevated serum creatine phosphokinase Flexion contracture Constipation Skeletal muscle atrophy Dysphagia Facial palsy Intellectual disability Lethargy Decreased fetal movement Areflexia Seizures Psychosis Congestive heart failure Difficulty walking Respiratory insufficiency due to muscle weakness Abnormality of the foot Talipes equinovarus Urinary incontinence Pain

Rare Symptoms - Less than 30% cases

Myopathy Respiratory failure Lactic acidosis Pigmentary retinopathy Talipes Low-set ears Exercise intolerance Infantile muscular hypotonia Joint hypermobility Microcephaly Paresthesia Hemolytic anemia Spinal deformities Scoliosis Dilated cardiomyopathy Ptosis Wrist drop Neonatal hypotonia Proximal muscle weakness Hyporeflexia Muscular dystrophy Ophthalmoplegia Long face Glucose intolerance Slurred speech Poor head control Distal muscle weakness Cognitive impairment Abnormality of the liver Cerebellar atrophy Kyphoscoliosis Behavioral abnormality Weak cry Feeding difficulties in infancy Hearing impairment Acidosis Diaphragmatic weakness Anemia Pes cavus Decreased nerve conduction velocity Gait ataxia Hypertension Cardiomyopathy Peripheral axonal neuropathy Severe muscular hypotonia Small for gestational age Distal amyotrophy Gastroesophageal reflux Elevated hepatic transaminase Myalgia Apathy Hemiplegia Disproportionate tall stature Atherosclerosis Ectopia lentis Methylmalonic aciduria Thromboembolism Megaloblastic anemia Cor pulmonale Gastroparesis Homocystinuria Abnormality of macular pigmentation Chronic hemolytic anemia Myelopathy Methylmalonic acidemia Gastritis Atrophy of the spinal cord Right ventricular failure Hemolytic-uremic syndrome Abnormality of retinal pigmentation Bundle branch block Anorexia Arthritis Malabsorption Congenital cataract Hip dislocation Retinopathy Mental deterioration Proteinuria Macrotia Confusion High forehead Reduced visual acuity Weight loss Cerebral cortical atrophy Dementia Depressivity Smooth philtrum Unsteady gait Recurrent urinary tract infections Aciduria Broad-based gait Pulmonary arterial hypertension Cytochrome C oxidase-negative muscle fibers Pancytopenia Abnormality of extrapyramidal motor function Memory impairment Neutropenia Retinal degeneration Urogenital fistula Metabolic acidosis Hepatic steatosis Hematuria Nephropathy Abnormality of skin pigmentation Delirium Sensory neuropathy Decreased methylcobalamin Hepatomegaly Optic atrophy Left bundle branch block Kyphosis Visual loss Ketosis Abnormality of the cerebral white matter Falls Distal sensory impairment Sensory impairment Optic disc pallor Sensorimotor neuropathy Foot dorsiflexor weakness Increased body weight Delayed gross motor development Dilatation Limb-girdle muscle weakness Abnormality of lysosomal metabolism Easy fatigability External ophthalmoplegia Cerebral visual impairment Increased serum lactate Irritability Blindness Increased muscle glycogen content Progressive external ophthalmoplegia Abnormality of refraction Bowel incontinence Left ventricular hypertrophy Cardiomegaly Macroglossia Hypertrophic cardiomyopathy Axial muscle weakness Neck muscle weakness Hyperhomocystinemia Hemiparesis Decreased adenosylcobalamin Decreased methionine synthase activity Vitamin B12 deficiency Cystathioninuria Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Cystathioninemia Thyroglossal cyst Vomiting Diarrhea Abdominal pain Tachycardia Polyneuropathy Hyponatremia Spinal rigidity Renal insufficiency Generalized amyotrophy Congenital muscular dystrophy Cachexia EMG abnormality Myocardial infarction Limitation of joint mobility Joint hyperflexibility Motor axonal neuropathy Narrow chest Hyperlordosis Gait disturbance Elevated urinary delta-aminolevulinic acid Abdominal colic Respiratory paralysis Thrombocytopenia Emotional lability Intellectual disability, severe Hyperglycemia Diabetes mellitus Osteopenia Joint laxity Muscular hypotonia of the trunk Hirsutism Generalized muscle weakness Waddling gait Lumbar hyperlordosis Atrial fibrillation Clumsiness Insulin resistance Narrow face Congenital hip dislocation Hyperinsulinemia Multiple joint contractures Cryptorchidism Bulbar palsy Glycosuria Centrally nucleated skeletal muscle fibers Difficulty running Insulin-resistant diabetes mellitus Nemaline bodies Limb joint contracture Abnormal glucose tolerance Postprandial hyperglycemia Type 1 fibers relatively smaller than type 2 fibers Short stature Hypertelorism Spasticity Delayed speech and language development High palate Prenatal maternal abnormality Hyperreflexia Diaphragmatic paralysis Intrauterine growth retardation Respiratory distress Hyperhidrosis Paralysis Camptodactyly of finger Premature birth Tachypnea Spinal muscular atrophy Axonal degeneration Hypoventilation Recurrent lower respiratory tract infections EMG: neuropathic changes Degeneration of anterior horn cells Diaphragmatic eventration Inspiratory stridor Recurrent myoglobinuria Nocturnal hypoventilation Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Hypoglycemia Apnea Muscle cramps Cholestasis Hydrops fetalis Hyperammonemia Rhabdomyolysis Myoglobinuria Hypoketotic hypoglycemia Abnormality of the amniotic fluid Epicanthus Dysarthria Hydrocephalus Abnormality of the nares Spastic diplegia Ankle clonus Scleroderma Cerebellar vermis atrophy Ankle contracture Premature loss of teeth Upper limb muscle weakness Dysuria Abnormality of the thumb Spastic dysarthria Speech apraxia Upper limb spasticity Mood swings Overbite Abnormality of brain morphology Impaired vibratory sensation Abnormal hand morphology Knee clonus Panic attack Narrow jaw Suicidal ideation Morphea Hyperextensible hand joints Hyperplasia of midface Ataxia Nystagmus Abnormal facial shape Cataract Visual impairment Tremor Hammertoe Abnormality of the hand Brachydactyly Paraplegia Downslanted palpebral fissures Frontal bossing Abnormality of the skeletal system Anteverted nares Intellectual disability, mild Midface retrusion Pectus excavatum Clinodactyly Babinski sign Hydronephrosis Anxiety Camptodactyly Spastic paraplegia Genu valgum Dysmetria Drooling Short foot Sleep disturbance Abnormal cerebellum morphology Gliosis Prominent nose Specific learning disability Overgrowth Choreoathetosis Lower limb spasticity Hallucinations Spastic gait Clonus Hoarse voice Spastic paraparesis Multiple mitochondrial DNA deletions


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