Microcephaly, and Lower limb muscle weakness

Diseases related with Microcephaly and Lower limb muscle weakness

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

Top matches:

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3 Is also known as charcot-marie-tooth disease with focally folded myelin|cmt4b3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3

Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T Is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related|muscular dystrophy, limb-girdle, autosomal recessive 19|muscular dystrophy, limb-girdle, type 2t|lgmd2t|lgmdr19

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

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

Medium match ARGININEMIA

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

ARGININEMIA Is also known as arg1 deficiency|arginase deficiency|hyperargininemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ARGININEMIA

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

Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

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

Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K Is also known as muscular dystrophy, limb-girdle, type 2k|muscular dystrophy, limb-girdle, autosomal recessive 11|lgmd2k|limb-girdle muscular dystrophy-intellectual disability syndrome|lgmdr11

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia Spastic paraplegia Paraplegia Motor delay Generalized hypotonia Growth delay Spastic paraparesis Seizures Spasticity Dysarthria Cognitive impairment Difficulty walking Short stature Delayed speech and language development Spastic gait Flexion contracture Tremor Cardiomyopathy Limb muscle weakness Cataract Kyphoscoliosis Gait ataxia Paraparesis Babinski sign Urinary incontinence

Rare Symptoms - Less than 30% cases

Tetraplegia Encephalopathy Feeding difficulties Hepatomegaly Intellectual disability, severe Toe walking Hypertonia Behavioral abnormality Abnormality of extrapyramidal motor function Low-set ears Failure to thrive Abnormal facial shape Emotional lability Peripheral neuropathy Lethargy Hip dislocation Anorexia Spastic diplegia Waddling gait Gliosis Skeletal muscle atrophy Muscular dystrophy Scoliosis Psychosis Hypertension Joint hypermobility Polyneuropathy Slurred speech Sensory impairment Impaired vibratory sensation Nystagmus Muscular hypotonia Intellectual disability, mild Elevated serum creatine phosphokinase Proximal muscle weakness Respiratory insufficiency Cerebral cortical atrophy Hypoglycosylation of alpha-dystroglycan Dysmetria Easy fatigability Abnormal glycosylation Limb-girdle muscular dystrophy Unsteady gait Difficulty climbing stairs Hepatic steatosis Nephropathy Dementia Acidosis Long face Malabsorption Reduced visual acuity Weight loss Hemolytic anemia Feeding difficulties in infancy Abnormality of skin pigmentation Smooth philtrum Retinopathy Mental deterioration Retinal degeneration High forehead Macrotia Arthritis Congenital cataract Proteinuria Paresthesia Confusion Overbite Depressivity Ankle clonus Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Cerebellar vermis atrophy Scleroderma Hammertoe Speech apraxia Abnormality of the hand Drooling Hoarse voice Clonus Hallucinations Progressive muscle weakness Lower limb spasticity Choreoathetosis Spastic dysarthria Upper limb spasticity Thrombocytopenia Hyperextensible hand joints Renal insufficiency Congestive heart failure Hydrocephalus Visual impairment Anemia Hearing impairment Hyperplasia of midface Morphea Mood swings Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Metabolic acidosis Hematuria Methylmalonic acidemia Neutropenia Pollakisuria Abdominal pain Dilatation Myopathy Respiratory distress Impaired continence Impaired vibration sensation at ankles Hyperreflexia in upper limbs Pseudobulbar paralysis Neonatal hypotonia Primitive reflex Urinary retention Absent Achilles reflex Corpus callosum atrophy Mild microcephaly Loss of speech Abnormality of the periventricular white matter Lower limb hyperreflexia Dyspnea Myalgia Foot dorsiflexor weakness Generalized amyotrophy Triceps weakness Impaired visuospatial constructive cognition Type 1 muscle fiber predominance Limb-girdle muscle weakness Centrally nucleated skeletal muscle fibers Spinal rigidity Hypokinesia Calf muscle hypertrophy Autistic behavior Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Congenital muscular dystrophy Gowers sign Left ventricular hypertrophy Ventricular hypertrophy Lumbar hyperlordosis Cough Postural tremor Abnormality of the cerebral white matter Aciduria Ectopia lentis Homocystinuria Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Apathy Hemiplegia Gastritis Atherosclerosis Abnormality of retinal pigmentation Recurrent urinary tract infections Broad-based gait Pulmonary arterial hypertension Pancytopenia Pigmentary retinopathy Memory impairment Myelopathy Right ventricular failure Absent speech Decreased methionine synthase activity Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased adenosylcobalamin Hemolytic-uremic syndrome Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Specific learning disability Atrophy of the spinal cord Overgrowth Abnormality of amino acid metabolism Prominent nose Loss of ability to walk Diaminoaciduria Respiratory alkalosis Oroticaciduria Hyperlysinuria Progressive spastic quadriplegia Cystinuria Cerebral edema Retrognathia Breathing dysregulation Reduced consciousness/confusion Alkalosis Loss of consciousness Hemiplegia/hemiparesis Athetosis Hyperammonemia Micrognathia Abnormality of the nervous system Cerebral palsy Premature graying of hair Progressive spastic paraparesis White hair Progeroid facial appearance Vitiligo Progressive spastic paraplegia Axonal degeneration Bowel incontinence Hypopigmentation of the skin Abnormality of the genitourinary system Horseshoe kidney Narrow face Cafe-au-lait spot Febrile seizures Nevus Sepsis Tachypnea Aminoaciduria Flexion contracture of toe Distal sensory impairment Neck muscle weakness Exercise intolerance Muscle cramps Onion bulb formation Decreased nerve conduction velocity Brain atrophy Ophthalmoplegia Axial muscle weakness Facial palsy Pes planus Glaucoma Areflexia Syndactyly Pain Strabismus Distal lower limb muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Muscle stiffness Irritability Spastic tetraplegia Coma Nausea Talipes Nausea and vomiting Neurological speech impairment Postnatal growth retardation Developmental regression Proximal muscle weakness in upper limbs EEG abnormality Hyperactivity Vomiting Edema Fatigable weakness of bulbar muscles Dilatation of the ventricular cavity Distal upper limb muscle weakness Multiple lentigines Bowel urgency Abnormal cerebellum morphology Decreased serum ferritin Epicanthus Hypertelorism Abnormality of divalent inorganic cation homeostasis Abnormal transferrin saturation Copper accumulation in liver Increased total iron binding capacity Pica Downslanted palpebral fissures Abnormal basal ganglia MRI signal intensity Abnormal globus pallidus morphology Vitamin E deficiency Unconjugated hyperbilirubinemia Micronodular cirrhosis Hepatic encephalopathy Hyperglycinemia Brachydactyly Frontal bossing Poor fine motor coordination Hydronephrosis Sleep disturbance Short foot Distal amyotrophy Genu valgum Abnormality of the foot Camptodactyly Anxiety Pes cavus Dysphagia Constipation Clinodactyly Pectus excavatum Midface retrusion Cerebellar atrophy Anteverted nares Abnormality of the skeletal system Abnormal myelination Prolonged prothrombin time Silver-gray hair Elevated hepatic transaminase Postural instability Neurodegeneration Cirrhosis Abnormality of movement Abnormality of the liver Hypertrophic cardiomyopathy Rigidity Gastrointestinal hemorrhage Jaundice Pneumonia Splenomegaly Dystonia Premature graying of body hair Hyperpigmentation in sun-exposed areas Hyperpigmented nevi Parkinsonism Neuronal loss in central nervous system Astrocytosis Axonal loss Esophageal varix Echolalia Hypomimic face Action tremor Generalized dystonia Limb dystonia Polycythemia Abnormality of coagulation Bradykinesia Steppage gait Portal hypertension Dysdiadochokinesis Hyperbilirubinemia Truncal ataxia Sensorimotor neuropathy Decreased liver function Thigh hypertrophy


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