Motor delay, and Fatigue

Diseases related with Motor delay and Fatigue

In the following list you will find some of the most common rare diseases related to Motor delay and Fatigue that can help you solving undiagnosed cases.

Top matches:

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. [HPO:probinson]

CREATINE PHOSPHOKINASE, ELEVATED SERUM Is also known as cpk, elevated serum|hyperckemia, idiopathic

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Fever
  • Fatigue
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about CREATINE PHOSPHOKINASE, ELEVATED SERUM

Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O Is also known as lgmdr15|muscular dystrophy, limb-girdle, type 2o|muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related|lgmd2o|muscular dystrophy, limb-girdle, autosomal recessive 15

Related symptoms:

  • Muscle weakness
  • Motor delay
  • Myopia
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O

Other less relevant matches:

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY Is also known as gsd type ixc|gsd due to liver phosphorylase kinase deficiency|xlg|glycogen storage disease type 9c|glycogen storage disease type 9a|gsd ixc|gsd type 9c|glycogen storage disease type ixc|glycogenosis due to liver phosphorylase kinase deficiency|glycogenosi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY

CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 6; EA6

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer|lcc|childhood-onset hcc|hcc|liver cell carcinoma|hepatoma|cancer, hepatocellular|childhood-onset hepatocellular carcinoma|pediatric hcc

Related symptoms:

  • Microcephaly
  • Neoplasm
  • Cryptorchidism
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly|myasthenia, familial infantile, 1, formerly|myasthenic syndrome, congenital, type id|cms1d, formerly|fim1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Top 5 symptoms//phenotypes associated to Motor delay and Fatigue

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Dysphagia Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Limb muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Fatigue. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscle cramps Dysarthria Intellectual disability Proximal muscle weakness Skeletal muscle atrophy Seizures Failure to thrive Ptosis Feeding difficulties Facial palsy

Rare Symptoms - Less than 30% cases

Elevated serum creatine phosphokinase Easy fatigability Strabismus Hepatic fibrosis Cirrhosis Hepatomegaly Global developmental delay High palate Gowers sign Hyperlordosis Vomiting Muscular dystrophy Fever Postural instability Hyperaldosteronism Nephrocalcinosis Hypokalemia Hypercalciuria Glomerulosclerosis Polydipsia Hyponatremia Congenital sensorineural hearing impairment Polyuria Hyperphenylalaninemia Renal salt wasting Hydrops fetalis Alkalosis Metabolic alkalosis Tubulointerstitial fibrosis Decreased glomerular filtration rate Hypokalemic alkalosis Hypokalemic metabolic alkalosis Hypernatriuria Abnormally large globe Opisthotonus Nephrolithiasis Prominent forehead Obsessive-compulsive behavior Hearing impairment Infantile encephalopathy Sensorineural hearing impairment Edema Renal insufficiency Excessive salivation Limb hypertonia Hyporeflexia Episodic fever Oculogyric crisis Limb dystonia Polyhydramnios Impulsivity Small for gestational age Stage 5 chronic kidney disease Triangular face Hypokinesia Premature birth Dehydration Protruding ear Obesity Mesangial hypercellularity Long face Giant cell hepatitis Embryonal neoplasm Epigastric pain Portal vein thrombosis Hepatic necrosis Viral hepatitis Subacute progressive viral hepatitis Respiratory failure Mandibular prognathia Arthrogryposis multiplex congenita Dental malocclusion Chronic infection Decreased fetal movement Respiratory insufficiency due to muscle weakness Ophthalmoparesis Decreased muscle mass Abnormality of the immune system Weak cry Fatigable weakness Limb-girdle muscle weakness Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Elevated alpha-fetoprotein Chronic hepatitis Increased urinary potassium Hyperkinesis Hypochloremia Fetal polyuria Hyperchloriduria Global glomerulosclerosis Hypochloremic metabolic alkalosis Hypokalemic hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation Microcephaly Neoplasm Cryptorchidism Abdominal pain Hepatoblastoma Carcinoma Abnormality of the liver Hepatic steatosis Hepatitis Type II diabetes mellitus Hepatocellular carcinoma Thrombocytosis Neoplasm of the liver Hypertyrosinemia Micronodular cirrhosis Poor suck Muscular hypotonia of the trunk Drooling Hypoglycemic seizures Hypertriglyceridemia Decreased liver function Hyperlipidemia Hypercholesterolemia Ketosis Recurrent hypoglycemia Fasting hypoglycemia Bile duct proliferation Portal fibrosis Scoliosis Lactic acidosis Flexion contracture Myopathy Distal muscle weakness Lower limb muscle weakness Waddling gait Progressive muscle weakness Scapular winging Increased variability in muscle fiber diameter Calf muscle hypertrophy Abdominal distention Elevated hepatic transaminase Centrally nucleated skeletal muscle fibers Exercise-induced muscle cramps Respiratory insufficiency Myalgia EMG: myopathic abnormalities Delayed gross motor development Rhabdomyolysis Malignant hyperthermia Mitochondrial myopathy Increased muscle fatiguability Abnormality of muscle fibers Inflammatory myopathy Hypoglycemia Myopia Lumbar hyperlordosis Limb-girdle muscular dystrophy Skeletal muscle hypertrophy Generalized amyotrophy Difficulty climbing stairs Short stature Growth delay Splenomegaly Acidosis Rimmed vacuoles Increased connective tissue Torticollis Abnormality of the eye Dystonia Depressivity Encephalopathy Babinski sign Constipation Hyperhidrosis Hyperactivity Rigidity Anxiety Irritability Hypertonia Lethargy Abnormality of eye movement Abnormality of movement Parkinsonism Bradykinesia Progressive neurologic deterioration Choreoathetosis Involuntary movements Intellectual disability, progressive Severe muscular hypotonia Behavioral abnormality Gait disturbance Ataxia Hemiparesis Nystagmus Cerebellar atrophy Headache Cerebellar hypoplasia Gait ataxia Photophobia Vertigo Nausea Migraine Diplopia Tremor Truncal ataxia Slurred speech Hemiplegia Urinary urgency Gaze-evoked nystagmus Episodic ataxia Phonophobia Hypometric saccades Spasticity Hyperreflexia Decreased size of nerve terminals


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