Skeletal muscle atrophy, and Neutropenia

Diseases related with Skeletal muscle atrophy and Neutropenia

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Neutropenia that can help you solving undiagnosed cases.

Top matches:

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Mitochondrial DNA depletion syndrome-13 is an autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content (summary by Bonnen et al., 2013 and Gai et al., 2013).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES Is also known as mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES

Other less relevant matches:

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D Is also known as lgmd1d|lgmd1e|muscular dystrophy, limb-girdle, type 1d, formerly|muscular dystrophy, limb-girdle, type 1e|lgmd1d, formerly

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Dysphagia
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D

Low match DOWN SYNDROME

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures (summary by Mercuri et al., 2005). Genetic Heterogeneity of Autosomal Recessive Limb-Girdle Muscular DystrophyAutosomal recessive LGMD is genetically heterogeneous.LGMDR2 (OMIM ), previously symbolized LGMD2B, is caused by mutation in the dysferlin gene (DYSF ) on 2p13. LGMDR3 (OMIM ), previously symbolized LGMD2D, is caused by mutation in the alpha-sarcoglycan gene (SGCA ) on 17q21. LGMDR4 (OMIM ), previously symbolized LGMD2E, is caused by mutation in the beta-sarcoglycan gene (SGCB ) on 4q12. LGMDR5 (OMIM ), previously symbolized LGMD2C, is caused by mutation in the gamma-sarcoglycan gene (SGCG ) on 13q12. LGMDR6 (OMIM ), previously symbolized LGMD2F, is caused by mutation in the delta-sarcoglycan gene (SGCD ) on 5q33. LGMDR7 (OMIM ), previously symbolized LGMD2G, is caused by mutation in the TCAP gene (OMIM ) on 17q12. LGMDR8 (OMIM ), previously symbolized LGMD2H, is caused by mutation in the TRIM32 gene (OMIM ) on 9q33. LGMDR9 (OMIM ), previously symbolized LGMD2I, is caused by mutation in the FKRP gene (OMIM ) on 19q13. LGMDR10 (OMIM ), previously symbolized LGMD2J, is caused by mutation in the titin gene (TTN ) on 2q31. LGMDR11 (OMIM ), previously symbolized LGMD2K, is caused by mutation in the POMT1 gene (OMIM ) on 9q34. LGMDR12 (OMIM ), previously symbolized LGMD2L, is caused by mutation in the ANO5 gene (OMIM ) on 11p14. LGMDR13 (OMIM ), previously symbolized LGMD2M, is caused by mutation in the FKTN gene (OMIM ) on 9q31. LGMDR14 (OMIM ), previously symbolized LGMD2N, is caused by mutation in the POMT2 gene (OMIM ) on 14q24. LGMDR15 (OMIM ), previously symbolized LGMD2O, is caused by mutation in the POMGNT1 gene (OMIM ) on 1p34. LGMDR16 (OMIM ), previously symbolized LGMD2P, is caused by mutation in the DAG1 gene (OMIM ) on 3p21. LGMDR17 (OMIM ), previously symbolized LGMD2Q, is caused by mutation in the PLEC1 gene (OMIM ) on 8q24. LGMDR18 (OMIM ), previously symbolized LGMD2S, is caused by mutation in the TRAPPC11 gene (OMIM ) on 4q35. LGMDR19 (OMIM ), previously symbolized LGMD2T, is caused by mutation in the GMPPB gene (OMIM ) on 3p21. LGMDR20 (OMIM ), previously symbolized LGMD2U, is caused by mutation in the ISPD gene (OMIM ) on 7p21. LGMDR21 (OMIM ), previously symbolized LGMD2Z, is caused by mutation in the POGLUT1 gene (OMIM ) on 3q13.Some forms of autosomal recessive LGMD were reclassified by Straub et al. (2018). LGMD2R was reclassified as a form of myofibrillar myopathy (MFM1 ). For forms previously designated LGMD2W, LGMD2X, and LGMD2Y, see {616827}, {616812}, and {617072}, respectively.For a discussion of autosomal dominant LGMD, see LGMDD1 (OMIM ).

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1 Is also known as lgmd2|muscular dystrophy, limb-girdle, type 2a|lgmd2a|muscular dystrophy, pelvofemoral|calpainopathy|leyden-moebius muscular dystrophy|muscular dystrophy, limb-girdle, type 2

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Difficulty walking


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Neutropenia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Skeletal muscle atrophy and Neutropenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Cataract Muscular hypotonia Gait disturbance Edema Neoplasm Developmental regression Failure to thrive Anemia Hyperreflexia Myopathy Hearing impairment Thrombocytopenia Recurrent respiratory infections Strabismus Nystagmus Abnormal facial shape Epicanthus Cerebral atrophy Macroglossia Muscle weakness Peripheral neuropathy Areflexia

Rare Symptoms - Less than 30% cases

Ventriculomegaly Hepatomegaly Neutrophilia Hyporeflexia Scoliosis Microcephaly Thick lower lip vermilion Lower limb muscle weakness Calf muscle hypertrophy Distal muscle weakness Proximal amyotrophy Splenomegaly Overgrowth Eosinophilia Leukopenia Difficulty walking Limb muscle weakness Downslanted palpebral fissures Chronic diarrhea Acidosis Brain atrophy Hyperammonemia Pes cavus Macrocephaly Abnormality of the skeletal system Protruding ear Elevated hepatic transaminase Encephalopathy Dysphagia Hernia Abnormal heart morphology Gait ataxia Inguinal hernia Cerebellar atrophy Cardiomyopathy Depressed nasal bridge Aspiration Hepatosplenomegaly Flexion contracture Sensory neuropathy Falls Immunodeficiency Behavioral abnormality Pancytopenia Diarrhea Vomiting Tremor Motor delay Muscular dystrophy Progressive neurologic deterioration Peripheral demyelination Myositis Short stature Cognitive impairment Foot dorsiflexor weakness Limb-girdle muscular dystrophy Short neck Peripheral axonal neuropathy Myofibrillar myopathy Paresthesia Leukemia Gastroesophageal reflux Mental deterioration Hydronephrosis Abnormality of movement Brachycephaly Joint laxity Elevated serum creatine phosphokinase Proximal muscle weakness Facial palsy Aspartylglucosaminuria Adenoma sebaceum Visceromegaly Abnormality of the ovary Gowers sign Vacuolated lymphocytes Spondylolisthesis Dysphonia Facial edema Cranial asymmetry Dysarthria Macroorchidism Hypoplastic frontal sinuses Waddling gait Angiofibromas Oligosacchariduria Generalized muscle weakness Spondylolysis Angiokeratoma Dyspnea Angiokeratoma corporis diffusum Methemoglobinemia Broad face Delayed speech and language development Beaking of vertebral bodies Long philtrum Erythema Coarse facial features High forehead Hyperactivity Myoclonus Delayed skeletal maturation Visual loss Abnormality of metabolism/homeostasis Kyphosis Nyctalopia Encephalomalacia Necrotizing encephalopathy Propionyl-CoA carboxylase deficiency Acute hyperammonemia Spasticity Blindness Intellectual disability, severe Anteverted nares Wide mouth Platyspondyly Dysostosis multiplex Hoarse voice Palpebral edema Thickened calvaria Muscle fibrillation Pathologic fracture Emotional lability Acne Widely spaced teeth Intellectual disability, progressive Hydrops fetalis Wide nose Gingival overgrowth Involuntary movements Mitral regurgitation Psychosis Neuronal loss in central nervous system Gliosis Generalized myoclonic seizures Ascites Increased variability in muscle fiber diameter Abnormality of cardiovascular system morphology Difficulty climbing stairs Prematurely aged appearance Acute lymphoblastic leukemia Thrombocytosis Protruding tongue Polycythemia Neurofibrillary tangles Congenital hypothyroidism Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Transposition of the great arteries Double outlet right ventricle Broad palm Atrioventricular canal defect Decreased fertility Hydroureter Alzheimer disease Cholelithiasis Breast carcinoma Renal hypoplasia/aplasia Sandal gap Thickened nuchal skin fold Hypoplastic iliac wing Bilateral single transverse palmar creases Atlantoaxial instability Scapular winging Clumsiness Inability to walk Acute megakaryocytic leukemia Left-to-right shunt Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Abnormality of the fontanelles or cranial sutures Senile plaques Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Myeloproliferative disorder Short middle phalanx of the 5th finger Complete atrioventricular canal defect Pulmonary edema Hypoxemia Acute monocytic leukemia Narrow palate Aganglionic megacolon Bulbar palsy Fatty replacement of skeletal muscle Abnormality of the dentition Hydrocephalus Myopia Brachydactyly Hypertension Skeletal muscle fibrosis Hyposegmentation of neutrophil nuclei Weakness of the intrinsic hand muscles Percussion myotonia Abnormality of muscle fibers Malar flattening Autophagic vacuoles Loss of ability to walk Pelvic girdle muscle weakness Muscle fiber splitting Shoulder girdle muscle weakness Bulbar signs Progressive proximal muscle weakness Spinal canal stenosis Rimmed vacuoles Short nose Decreased plasma carnitine Open mouth Anal atresia Depressed nasal ridge Type II diabetes mellitus Microdontia Postural instability Single transverse palmar crease Downturned corners of mouth Postaxial polydactyly Short palm Flat face Hypotrichosis Obesity Microtia Conductive hearing impairment Umbilical hernia Hypothyroidism Narrow mouth Polydactyly Upslanted palpebral fissure Dementia Clinodactyly of the 5th finger Hyperglycinuria Renal cyst Seborrheic dermatitis Lactic acidosis Narrow face Leukodystrophy Choreoathetosis Increased serum lactate Delayed myelination Short foot Everted lower lip vermilion Thick eyebrow Congenital cataract Plagiocephaly Severe global developmental delay Small for gestational age Abnormality of the pinna Hypertrophic cardiomyopathy Cerebellar hypoplasia Arrhythmia Hypospadias Absent speech Dystonia Truncal ataxia Global brain atrophy Growth delay Photophobia Hypopigmentation of the skin Neurodegeneration Bruising susceptibility Lymphadenopathy Paraplegia Spastic paraplegia Abnormality of the eye Rigidity Jaundice Renal tubular acidosis Reduced visual acuity Atrial septal defect Fever Visual impairment Persistent lactic acidosis Mitochondrial respiratory chain defects Hyperalaninemia Gastrointestinal dysmotility Concave nasal ridge Hypoplasia of the corpus callosum Folate-responsive megaloblastic anemia Parkinsonism Onion bulb formation Irritability Feeding difficulties in infancy Pneumonia Hypertonia Segmental peripheral demyelination Peripheral axonal degeneration Segmental peripheral demyelination/remyelination Sensory ataxia Decreased number of peripheral myelinated nerve fibers Pallor Axonal degeneration Focal segmental glomerulosclerosis Steppage gait Glomerulosclerosis Frequent falls Sensory impairment Distal sensory impairment Distal amyotrophy Abnormality of the foot Respiratory tract infection Nausea and vomiting Glossitis Abnormality of the immune system Folate deficiency Oral ulcer Normocytic anemia Cheilitis Megaloblastic anemia Drowsiness Macrocytic anemia Basal ganglia calcification Athetosis Malabsorption Recurrent upper respiratory tract infections Increased body weight Anorexia Recurrent urinary tract infections Cerebral calcification Focal-onset seizure Decreased antibody level in blood Sepsis Dyskinesia Abnormal bleeding Lymphoma Organic aciduria Renal dysplasia Enlarged kidney Large for gestational age Bowing of the legs Large hands Nephroblastoma Spina bifida occulta Spina bifida Tall stature Mitral valve prolapse Varicose veins Intestinal malrotation Round face Thick vermilion border Astigmatism Talipes Coloboma Deeply set eye Pes planus Macrotia Long foot Retinal coloboma Intellectual disability, mild Hepatic steatosis Ketonuria Ketoacidosis Hypoventilation Opisthotonus Dehydration Cyanosis Coma Metabolic acidosis Lethargy Long hallux Hypoglycemia Alopecia Depressivity Dilatation Congestive heart failure Fatigue Feeding difficulties Bifid ureter Renal malrotation Midface retrusion Talipes equinovarus Gastrointestinal hemorrhage Decreased nerve conduction velocity Gingival bleeding Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Cerebral hemorrhage Albinism Melanocytic nevus Abnormality of vision Gingivitis Cranial nerve paralysis Skin ulcer Hyperpigmentation of the skin Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Epistaxis Abnormality of extrapyramidal motor function Bradykinesia Iris hypopigmentation Periodontitis Ventricular septal defect Hypofibrinogenemia Sensorineural hearing impairment Hypertelorism Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Oculogyric crisis Fair hair Recurrent bacterial skin infections Macular hypoplasia Partial albinism Hypersplenism Progressive peripheral neuropathy Hemophagocytosis Spinocerebellar tract degeneration White hair Generalized hypopigmentation Calf muscle pseudohypertrophy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Cerebellar vermis hypoplasia, related diseases and genetic alterations Intellectual disability, severe and Hydronephrosis, related diseases and genetic alterations Wide nasal bridge and Cerebral calcification, related diseases and genetic alterations