Muscle weakness, and Hypertriglyceridemia

Diseases related with Muscle weakness and Hypertriglyceridemia

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

Top 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

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

Familial partial lipodystrophy-6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017).

LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as fpld6|lipe-related fpld|lipodystrophy, familial partial, associated with lipe mutations

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM ORPHANET MENDELIAN

More info about LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Other less relevant matches:

The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM Is also known as cpt2, adult-onset form|cpt2 deficiency, late-onset|carnitine palmitoyl transferase deficiency type 2, myopathic form|cptii, myopathic form|carnitine palmitoyl transferase ii deficiency, adult-onset form|carnitine palmitoyl transferase deficiency type 2, a

Related symptoms:

  • Muscle weakness
  • Pain
  • Spasticity
  • Visual impairment
  • Fever


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Low 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

PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

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

Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 Is also known as emd1|scapuloperoneal syndrome, x-linked, formerly|humeroperoneal neuromuscular disease, formerly|muscular dystrophy, tardive, dreifuss-emery type, with contractures

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Top 5 symptoms//phenotypes associated to Muscle weakness and Hypertriglyceridemia

Symptoms // Phenotype % cases
Hyperlipidemia Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Hypertriglyceridemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Proximal muscle weakness Insulin resistance Skeletal muscle atrophy Fatigue Myalgia Pain Lipodystrophy Ketosis Hypercholesterolemia Intellectual disability Exercise intolerance Cardiomyopathy Generalized hypotonia Elevated hepatic transaminase Hypoglycemia Muscular hypotonia

Rare Symptoms - Less than 30% cases

Distal muscle weakness Increased hepatic glycogen content Diabetes mellitus Gowers sign Muscular dystrophy Hepatic steatosis Pancreatitis Acanthosis nigricans Peripheral axonal neuropathy Lower limb muscle weakness Ichthyosis Hepatosplenomegaly Abnormality of lipid metabolism Proximal muscle weakness in lower limbs Loss of subcutaneous adipose tissue in limbs Proximal muscle weakness in upper limbs Exercise-induced myalgia Left ventricular hypertrophy Obesity Waddling gait Arrhythmia Myoglobinuria Progressive proximal muscle weakness Muscle stiffness Global developmental delay Growth delay Failure to thrive Motor delay Lactic acidosis Cirrhosis Abdominal distention Hepatic fibrosis Decreased liver function Recurrent hypoglycemia Muscle cramps Progressive muscle weakness Paresthesia Epidermal acanthosis Neck muscle weakness Difficulty running Brisk reflexes Psoriasiform dermatitis Glucose intolerance Easy fatigability Rod-cone dystrophy Gait ataxia Fasciculations Clonus Abnormality of the face Difficulty walking Orthostatic hypotension Areflexia Pigmentary retinopathy Recurrent infections Congestive heart failure Hypotension Distal sensory impairment Retinopathy Sensorineural hearing impairment Congenital cataract Hearing impairment Decreased adipose tissue around neck Lack of facial subcutaneous fat Dysmetria Absence of subcutaneous fat Increased muscle lipid content EMG: myopathic abnormalities Scoliosis Abnormality of the neck Myotonia Toe walking Spinal rigidity Rimmed vacuoles Sprengel anomaly Heart block Vocal cord paralysis Achilles tendon contracture Back pain Supraventricular arrhythmia Atrial arrhythmia Increased LDL cholesterol concentration Proximal lower limb amyotrophy Ventricular escape rhythm Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Limb-girdle muscular dystrophy Atrioventricular block Ptosis Paralysis Flexion contracture Gait disturbance Kyphosis Pectus excavatum Pes cavus Hypertrophic cardiomyopathy Hyperlordosis Joint stiffness Cataract Dilated cardiomyopathy Unsteady gait Sudden cardiac death Lumbar hyperlordosis Elbow flexion contracture Scapular winging Respiratory insufficiency due to muscle weakness Reduced tendon reflexes Babinski sign Full cheeks Micrognathia Abnormality of the labia majora Abdominal obesity Decreased serum leptin Increased adipose tissue around the neck Loss of gluteal subcutaneous adipose tissue Increased intraabdominal fat Marked muscular hypertrophy Decreased adiponectin level Spasticity Oligomenorrhea Visual impairment Fever Renal insufficiency Respiratory failure Hypocalcemia Hyperkalemia Abnormality of the musculature Menstrual irregularities Insulin-resistant diabetes mellitus Severe vision loss Diarrhea Splenomegaly Acidosis Fasting hypoglycemia Bile duct proliferation Portal fibrosis Hypoglycemic seizures Vomiting Headache Reduced subcutaneous adipose tissue Irritability Scarring Nausea and vomiting Nausea Increased muscle glycogen content Polycystic ovaries Difficulty climbing stairs Rhabdomyolysis Hyperphosphatemia Nystagmus Hypocholesterolemia Abdominal pain Corneal opacity Nail dystrophy Dry skin Ectropion Syringomyelia Facial diplegia Chronic noninfectious lymphadenopathy Anemia Progressive peripheral neuropathy Coronary artery stenosis Accelerated atherosclerosis Carotid artery stenosis Impaired thermal sensitivity Orange discoloured tonsils Ataxia Thrombocytopenia Sinus tachycardia Ketonuria Thin upper lip vermilion Hyperlipoproteinemia Recurrent myoglobinuria Recurrent pancreatitis Depressed nasal bridge Intellectual disability, mild Immunodeficiency Midface retrusion Deeply set eye Increased muscle fatiguability Thin vermilion border Distal amyotrophy Broad nasal tip Seizures Cardiomegaly Ventricular hypertrophy Neurodevelopmental delay Absent muscle fiber emerin


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