Myopathy, and Diabetes mellitus

Diseases related with Myopathy and Diabetes mellitus

In the following list you will find some of the most common rare diseases related to Myopathy and Diabetes mellitus that can help you solving undiagnosed cases.

Top matches:

Autosomal dominant limb-girdle muscular dystrophy type 1G (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G Is also known as lgmd1g|muscular dystrophy, limb-girdle, type 1g

Related symptoms:

  • Muscle weakness
  • Cataract
  • Myopathy
  • Hyporeflexia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MESH OMIM MENDELIAN

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

Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).

PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE Is also known as ppnad|primary pigmented nodular adrenal dysplasia|cushing syndrome, adrenal, due to ppnad3

Related symptoms:

  • Short stature
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

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:

Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.

GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY Is also known as gyg1 deficiency|glycogen storage disease type xv|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|glycogenin deficiency|gsd type 15|glycogen storage disease type 15|glycogenosis type 15|glycogenosis type xv|gsd xv|gsd type xv|gsd with

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Respiratory distress
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY

Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

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

Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Diabetes mellitus

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Peripheral neuropathy Difficulty walking Short stature Ataxia Peripheral axonal neuropathy Hyperlipidemia Insulin resistance Intellectual disability Hepatic steatosis Fatigue Skeletal muscle atrophy Cardiomyopathy Muscular dystrophy

Rare Symptoms - Less than 30% cases

Motor delay Lipodystrophy Global developmental delay Recurrent infections Optic atrophy EMG: myopathic abnormalities Limb muscle weakness Ophthalmoplegia Exercise intolerance Progressive muscle weakness Hyporeflexia Insulin-resistant diabetes mellitus Abnormality of lipid metabolism Seizures Type II diabetes mellitus Polycystic ovaries Progressive proximal muscle weakness Generalized hypotonia Hypertension Difficulty running Osteoporosis Sensorineural hearing impairment Hypothyroidism Myalgia Shoulder girdle muscle weakness Hepatomegaly Generalized hirsutism Hematuria Lymphocytosis Hirsutism Nephropathy Glomerulonephritis Nephrotic syndrome Lipoatrophy Progeroid facial appearance Microscopic hematuria Premature ovarian insufficiency Hypertrichosis Glomerulopathy Scotoma Peripheral arterial stenosis Autoimmunity Facial palsy Ketoacidosis Adrenal hypoplasia Episodic vomiting Congenital adrenal hypoplasia Adrenocortical hypoplasia Increased urinary glycerol Hyperglycerolemia Muscular hypotonia Dysarthria Sensory neuropathy Proteinuria Type I diabetes mellitus Ragged-red muscle fibers Mitochondrial myopathy Proximal amyotrophy Decreased serum complement C3 Decreased activity of mitochondrial complex IV Weakness of orbicularis oculi muscle Immunodeficiency Alopecia Arthralgia Membranoproliferative glomerulonephritis Areflexia Loss of truncal subcutaneous adipose tissue Bilateral sensorineural hearing impairment Autism Anxiety Abnormality of the pinna Pallor Autistic behavior Retinopathy Delayed puberty Progressive cerebellar ataxia Gastrointestinal dysmotility Male hypogonadism Dementia Psychosis Hallucinations Progressive hearing impairment Schizophrenia Congenital sensorineural hearing impairment Glucose intolerance Diabetes insipidus Abnormality of color vision Severe postnatal growth retardation Severe vision loss Glaucoma Visual loss Progressive loss of facial adipose tissue Fasciculations Loss of subcutaneous adipose tissue from upper limbs Pain Congestive heart failure Obesity Optic neuropathy Elevated hepatic transaminase Distal muscle weakness Ichthyosis Waddling gait Easy fatigability Depressivity Loss of consciousness Psoriasiform dermatitis Primary gonadal insufficiency Gowers sign Central diabetes insipidus Neck muscle weakness Abnormality of the upper urinary tract Increased muscle lipid content Visual impairment Respiratory insufficiency Pathologic fracture Increased mitochondrial number Adrenal insufficiency Ptosis Proximal muscle weakness in upper limbs Decreased serum leptin Increased adipose tissue around the neck Loss of gluteal subcutaneous adipose tissue Increased intraabdominal fat Marked muscular hypertrophy Decreased adiponectin level Abnormality of the labia majora Microcephaly Tremor Abdominal obesity Dystonia Dyskinesia Chorea Specific learning disability Abnormality of extrapyramidal motor function Involuntary movements Stereotypy Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Loss of subcutaneous adipose tissue in limbs Proximal muscle weakness in lower limbs Centrally nucleated skeletal muscle fibers Hypogonadism Lower limb muscle weakness Muscle cramps Limb-girdle muscular dystrophy Rimmed vacuoles Pelvic girdle muscle weakness Proximal lower limb amyotrophy Proximal upper limb amyotrophy Decreased movement range in interphalangeal joints Flexion limitation of toes Thin skin Menstrual irregularities Increased susceptibility to fractures Striae distensae Increased circulating cortisol level Adrenal hyperplasia Slender build Pigmented micronodular adrenocortical disease Acanthosis nigricans Difficulty climbing stairs Reduced subcutaneous adipose tissue Oligomenorrhea Resting tremor Orofacial dyskinesia Coma Abnormal facial shape Abdominal wall muscle weakness Abnormal levels of creatine kinase in blood Cardiomyocyte hypertrophy Left ventricular septal hypertrophy Cataract Decreased muscle glycogen content Growth delay Hypertelorism Strabismus Cryptorchidism Neck flexor weakness Low-set ears Frontal bossing Vomiting Acidosis Hypoglycemia Small for gestational age Lethargy Downturned corners of mouth Metabolic acidosis ST segment elevation T-wave inversion Abnormal posturing Palpitations Abnormal basal ganglia MRI signal intensity Progressive extrapyramidal movement disorder Progressive extrapyramidal muscular rigidity Central core regions in muscle fibers Respiratory distress Arrhythmia Vertigo Tachycardia Ventricular hypertrophy Foot dorsiflexor weakness Upper limb muscle weakness Scapular winging Ventricular tachycardia Ventricular arrhythmia Ventricular fibrillation Right bundle branch block Bundle branch block Decreased muscle mass Exertional dyspnea Abnormal EKG Myoglobinuria Moderate hearing impairment


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