Hepatomegaly, and Distal muscle weakness

Diseases related with Hepatomegaly and Distal muscle weakness

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

Top matches:

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression (Spinazzola et al., 2008).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

NAVAJO NEUROHEPATOPATHY Is also known as nnh|navajo neurohepatopathy|nn|navajo neuropathy

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NAVAJO NEUROHEPATOPATHY

Other less relevant matches:

INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

Medium match CHOREOACANTHOCYTOSIS

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Medium match TANGIER DISEASE

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

TANGIER DISEASE Is also known as defective adenosine triphosphate-binding cassette transporter a1|analphalipoproteinemia|atp-binding cassette transporter a1 deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Abdominal pain
  • Hepatosplenomegaly
  • Distal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about TANGIER DISEASE

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

Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

PYRIDOXINE-DEPENDENT EPILEPSY Is also known as antiquitin deficiency|vitamin b6-dependent seizures

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about PYRIDOXINE-DEPENDENT EPILEPSY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Distal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% 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
Splenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Distal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Hepatosplenomegaly Hyporeflexia Elevated hepatic transaminase Ataxia Peripheral neuropathy Growth delay Hypertriglyceridemia Muscular hypotonia Seizures Areflexia Motor delay Failure to thrive Nystagmus Abdominal pain Acute hepatic failure Hearing impairment Sensorineural hearing impairment Sensorimotor neuropathy Hepatic fibrosis Myopathy Hepatic steatosis Fatigue Hyperlipidemia Elevated serum creatine phosphokinase Skeletal muscle atrophy Talipes equinovarus

Rare Symptoms - Less than 30% cases

Progressive proximal muscle weakness Pes cavus Exercise intolerance Insulin resistance Dysphagia Developmental regression Vomiting Flexion contracture Feeding difficulties Ventriculomegaly Neurological speech impairment Cerebral cortical atrophy Abnormality of movement Hypothyroidism Generalized muscle weakness Dystonia Decreased liver function Progressive neurologic deterioration Cirrhosis Lactic acidosis Abnormality of the nervous system Hypoglycemia Sensory neuropathy Ileus Myalgia Tremor Arrhythmia Constipation Progressive cerebellar ataxia Abnormality of the liver Neonatal hypotonia Pain Hepatic failure Cerebellar atrophy Congestive heart failure Distal sensory impairment Recurrent infections Diabetes mellitus Spasticity Proximal muscle weakness Hypertension Rigidity Muscular dystrophy Osteopenia Hyperlordosis Postnatal growth retardation Protruding ear Leukodystrophy Osteoporosis Delayed skeletal maturation Joint stiffness Hypohidrosis Spastic paraplegia Palpitations Underdeveloped nasal alae Sparse and thin eyebrow Peripheral demyelination Spastic tetraplegia Long eyelashes Thin skin Aganglionic megacolon Tachycardia Atrial fibrillation Ventricular hypertrophy Epidermal acanthosis Growth hormone deficiency Abnormality of the skeletal system Sudden cardiac death Hirsutism Dilatation Absent brainstem auditory responses Scoliosis Intestinal pseudo-obstruction CNS hypomyelination White eyelashes Decreased nerve conduction velocity Portal hypertension Alacrima Intestinal obstruction White forelock Anosmia Demyelinating peripheral neuropathy White hair Premature graying of hair Heterochromia iridis Blue irides Congenital nystagmus Abnormal eyebrow morphology White eyebrow Microcolon Spasmus nutans Hypoplasia of the cochlea Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Hypopigmentation of hair Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Meconium ileus Hypopigmented skin patches Peripheral hypomyelination Spotty hyperpigmentation Decreased lacrimation Cerebral dysmyelination Abnormal autonomic nervous system physiology Spastic paraparesis Torticollis Bradycardia Reduced subcutaneous adipose tissue Muscle stiffness Corneal opacity Facial diplegia Syringomyelia Ectropion Left ventricular hypertrophy Peripheral axonal neuropathy Dry skin Nail dystrophy Thrombocytopenia Chronic noninfectious lymphadenopathy Anemia Adipose tissue loss Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Hypocholesterolemia Progressive peripheral neuropathy Congenital generalized lipodystrophy Recurrent hypoglycemia EEG abnormality Abnormality of metabolism/homeostasis Strabismus Hypoglycemic seizures Portal fibrosis Bile duct proliferation Fasting hypoglycemia Ketosis Coronary artery stenosis Hypercholesterolemia Abdominal distention Acidosis Orange discoloured tonsils Impaired thermal sensitivity Carotid artery stenosis Accelerated atherosclerosis Abnormality of upper lip Atlantoaxial instability Pointed chin Ventricular arrhythmia Ventricular fibrillation Failure to thrive in infancy Lipodystrophy Hyperinsulinemia Prominent supraorbital ridges Pyloric stenosis Polycystic ovaries Reduced bone mineral density Cutis marmorata Delayed gross motor development Ventricular tachycardia Pancreatitis Atherosclerosis Acanthosis nigricans Accelerated skeletal maturation Recurrent bacterial infections Skeletal muscle hypertrophy Increased variability in muscle fiber diameter Polymorphic ventricular tachycardia Exercise-induced myalgia Abnormal levels of creatine kinase in blood Fasting hyperinsulinemia Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Atlantoaxial dislocation Prolonged QTc interval Generalized lipodystrophy Prominent superficial veins Mildly elevated creatine phosphokinase Supraventricular tachycardia Protuberant abdomen IgA deficiency Secondary amenorrhea Lipoatrophy Spinal rigidity Coma Prolonged QT interval Tetraplegia Acanthocytosis Hypopigmentation of the skin Microvesicular hepatic steatosis Reye syndrome-like episodes Endometriosis Painless fractures due to injury Acral ulceration Corneal ulceration Macrovesicular hepatic steatosis Pain insensitivity Microcephaly Periventricular leukomalacia Recurrent corneal erosions Arthropathy Abnormality of the immune system Prolonged neonatal jaundice Decreased number of peripheral myelinated nerve fibers Osteomyelitis leading to amputation due to slow healing fractures Hypertelorism Increased body weight Progressive microcephaly Pancreatic fibrosis Ankle contracture Exocrine pancreatic insufficiency Shawl scrotum Steatorrhea Proximal placement of thumb Exotropia Abnormal facial shape Postnatal microcephaly Decreased fetal movement Hip dislocation Thin upper lip vermilion Brachycephaly Midface retrusion Delayed speech and language development Increased susceptibility to fractures Cholestasis Cognitive impairment Intention tremor Saccadic smooth pursuit Distal lower limb muscle weakness Progressive gait ataxia Cerebellar vermis atrophy Foot dorsiflexor weakness Frequent falls Sensory impairment Generalized limb muscle atrophy Paresthesia Reduced visual acuity Gait ataxia Intellectual disability, mild Optic atrophy Fever Hyperreflexia Dysmetric saccades Stuttering Abnormality of the cerebral white matter Gowers sign Jaundice Diarrhea Edema Increased muscle lipid content Neck muscle weakness Difficulty running Psoriasiform dermatitis Cardiomyopathy Easy fatigability Fasciculations Progressive muscle weakness Waddling gait Ichthyosis Difficulty walking Obesity Cataract Dysarthria Distal amyotrophy Muscle fiber atrophy Distal upper limb muscle weakness Abnormal erythrocyte morphology Difficulty in tongue movements Abetalipoproteinemia Mood changes Abnormal urinary color Dysgraphia Phonic tics Disinhibition Orofacial dyskinesia Tics Self-mutilation Protruding tongue Abnormality of the thyroid gland Generalized amyotrophy Caudate atrophy Abnormality of urine homeostasis Self-injurious behavior Intellectual disability, severe Arthrogryposis multiplex congenita Prominent nasal bridge Abnormal pyramidal sign Telecanthus Hypogonadism Myoclonus Myopia Hair-pulling Wide nasal bridge Cryptorchidism Self-mutilation of tongue and lips due to involuntary movements Square-wave jerks Subcortical dementia Progressive choreoathetosis Progressive distal muscular atrophy Personality changes Abnormality of vision Gait disturbance Hypertrophic cardiomyopathy Limb muscle weakness Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Pallor Mental deterioration Abnormality of the eye Aggressive behavior Nausea and vomiting Anxiety Weight loss Dementia Recurrent respiratory infections Depressivity Cerebral atrophy Behavioral abnormality Malabsorption Abnormality of the foot Drooling Chorea EMG abnormality Vasculitis Involuntary movements Psychosis Neuronal loss in central nervous system Memory impairment Gliosis Abnormality of eye movement Parkinsonism Abnormal bleeding Ascites Sleep disturbance Neurodegeneration Dyskinesia Lymphadenopathy Status epilepticus


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